F8 c.1996_1997delinsAG ;(p.D666S)

Variant ID: X-154176089-TC-CT

NM_000132.3(F8):c.1996_1997delinsAG;(p.D666S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Stabilizing interactions between D666-S1787 and T657-Y1792 at the A2-A3 interface support factor VIIIa stability in the blood clotting pathway.

Journal Of Thrombosis And Haemostasis : Jth
Monaghan, M M; Wakabayashi, H H; Griffiths, A E AE; Fay, P J PJ
Publication Date: 2016-05

Variant appearance in text: FVIII: D666S
PubMed Link: 26878264
Variant Present in the following documents:
  • Main text
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