Varaico: Literature-Extracted Genetic Variants

WHAMM

54 papers

RefSeq Summary

This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-rel...

Pfam Domains

WHAMM-JMY_Naa 5–179UCSCN-terminal of Junction-mediating and WASP homolog-associated

JMYaa 180–442UCSCJunction-mediating and -regulatory protein

Gene Aliases

HGNC Name

WASP homolog associated with actin, golgi membranes and microtubules

HGNC Previous Symbol

WHDC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001080435.3

p.R479G

c.1435A>G

Surrounding Variants

1 paper

NM_001080435.3

p.D445Y

c.1333G>T

1 paper

NM_001080435.3

p.E424Splc

c.1271-35A>T

1 paper

NM_001080435.3

p.R541*

c.1621C>T

2 papers

NM_001080435.3

p.I422_E424delFs

c.1264_1270del7

1 paper

NM_001080435.3

p.L418delFs

c.1252_1253delCT

2 papers

NM_001080435.3

p.Y397S

c.1190A>C

1 paper

NM_001080435.3

p.Y302*

c.906T>A

1 paper

NM_001080435.3

p.Y302*

c.906T>G

1 paper

NM_001080435.3

p.S294C

c.881C>G

1 paper

NM_001080435.3

p.A291D

c.872C>A

1 paper

NM_001080435.3

p.Q552R

c.1655A>G

1 paper

NM_001080435.3

p.Q552Q

c.1656A>G