LDLR c.335A>C ;(p.D112A)

Variant ID: 19-11215917-A-C

NM_000527.4(LDLR):c.335A>C;(p.D112A)

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:

Mutational analysis of sclerostin shows importance of the flexible loop and the cystine-knot for Wnt-signaling inhibition.

Plos One
Boschert, Verena V; van Dinther, Maarten M; Weidauer, Stella S; van Pee, Katharina K; Muth, Eva-Maria EM; Ten Dijke, Peter P; Mueller, Thomas D TD
Publication Date: 2013

Variant appearance in text: LDLR: D112A
PubMed Link: 24312339
Variant Present in the following documents:
  • Main text
View BVdb publication page