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

1–12 of 49 variants

4 papers

NM_001080435.3

p.H736P

c.2207A>C

3 papers

NM_001080435.3

p.R725W

c.2173C>T

2 papers

NM_001080435.3

p.I205N

c.614T>A

2 papers

NM_001080435.3

p.N212S

c.635A>G

2 papers

NM_001080435.3

p.Y397S

c.1190A>C

2 papers

NM_001080435.3

p.I422_E424delFs

c.1264_1270del7

2 papers

NM_001080435.3

p.P654L

c.1961C>T

2 papers

NM_001080435.3

p.Q667E

c.1999C>G

2 papers

NM_001080435.3

p.R686H

c.2057G>A

2 papers

NM_001080435.3

p.P730L

c.2189C>T

2 papers

NM_001080435.3

p.H736delins

c.2207_2208delinsCG

2 papers

NM_001080435.3

p.H736Q

c.2208C>A