Varaico: Literature-Extracted Genetic Variants

Gene:WHRN
Variant:p.D767delFs

WHRN

298 papers

RefSeq Summary

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene hav...

Pfam Domains

PDZaa 140–219UCSCPDZ domain
PDZaa 279–357UCSCPDZ domain
PDZaa 816–890UCSCPDZ domain

Gene Aliases

HGNC Name

whirlin

HGNC Previous Symbol

DFNB31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_015404.4
p.D767delFs
c.2299delC
Surrounding Variants
4 papers
NM_015404.4
p.G769G
c.2307C>T
3 papers
NM_015404.4
p.S761S
c.2283C>T
1 paper
NM_015404.4
p.S774I
c.2321G>T
1 paper
NM_015404.4
p.S774insFs
c.2321_2322insA
1 paper
NM_015404.4
p.S774S
c.2322C>T
1 paper
NM_015404.4
p.E772_A775delFs
c.2315_2325del11
1 paper
NM_015404.4
p.G777G
c.2331C>A
10 papers
NM_015404.4
p.R778*
c.2332C>T
1 paper
NM_015404.4
p.R780_Q781ins4
c.2338_2342ins12
1 paper
NM_015404.4
p.S754delFs
c.2260delA
7 papers
NM_015404.4
p.V783A
c.2348T>C
1 paper
NM_015404.4
p.T785I
c.2354C>T
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