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.L190F

c.570G>T

Surrounding Variants

1 paper

NM_001080435.3

p.L190F

c.570G>C

1 paper

NM_001080435.3

p.R186W

c.556C>T

1 paper

NM_001080435.3

p.R183S

c.547C>A

1 paper

NM_001080435.3

p.T44I

c.131C>T

1 paper

NM_001080435.3

p.A21A

c.63C>T

1 paper

NM_001080435.3

p.E2D

c.6G>C

1 paper

NM_001080435.3

p.E2D

c.6G>T

2 papers

NM_001080435.3

p.I205N

c.614T>A

1 paper

NM_001080435.3

p.H208Q

c.624C>A

1 paper

NM_001080435.3

p.H208Q

c.624C>G

1 paper

NM_001080435.3

p.K210R

c.629A>G

2 papers

NM_001080435.3

p.N212S

c.635A>G