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.D683G

c.2048A>G

Surrounding Variants

2 papers

NM_001080435.3

p.R686H

c.2057G>A

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

2 papers

NM_001080435.3

p.P654L

c.1961C>T

1 paper

NM_001080435.3

p.P649L

c.1946C>T

1 paper

NM_001080435.3

p.P641S

c.1921C>T

1 paper

NM_001080435.3

p.T628I

c.1883C>T

1 paper

NM_001080435.3

p.H613Y

c.1837C>T

1 paper

NM_001080435.3

p.S599L

c.1796C>T

1 paper

NM_001080435.3

p.T593fs

c.1777_1778fs