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

3 papers

NM_001080435.3

p.R725W

c.2173C>T

Surrounding Variants

2 papers

NM_001080435.3

p.P730L

c.2189C>T

1 paper

NM_001080435.3

p.A731V

c.2192C>T

4 papers

NM_001080435.3

p.H736P

c.2207A>C

2 papers

NM_001080435.3

p.H736delins

c.2207_2208delinsCG

2 papers

NM_001080435.3

p.H736Q

c.2208C>A

2 papers

NM_001080435.3

p.H736Q

c.2208C>G

2 papers

NM_001080435.3

p.R686H

c.2057G>A

1 paper

NM_001080435.3

p.D683G

c.2048A>G

2 papers

NM_001080435.3

p.Q667E

c.1999C>G

1 paper

NM_001080435.3

p.R660H

c.1979G>A

1 paper

NM_001080435.3

p.R660fs

c.1978_1979fs

1 paper

NM_001080435.3

p.R660insFs

c.1978dupC