Varaico: Literature-Extracted Genetic Variants

WASF1

427 papers

RefSeq Summary

The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskelet...

Pfam Domains

SCAR_helicalaa 28–86UCSCSCAR helical domain

WAVE5_2ndaa 115–156UCSCWAVE5 second domain

WH2aa 494–521UCSCWH2 motif

Gene Aliases

HGNC Name

WASP family member 1

HGNC Alias Symbols

WAVE1; SCAR1; KIAA0269; WAVE; WAVE-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003931.3

p.V394I

c.1180G>A

Surrounding Variants

1 paper

NM_003931.3

p.S397A

c.1189T>G

1 paper

NM_003931.3

p.P391S

c.1171C>T

1 paper

NM_003931.3

p.P399Q

c.1196C>A

1 paper

NM_003931.3

p.P388S

c.1162C>T

3 papers

NM_003931.3

p.A403V

c.1208C>T

1 paper

NM_003931.3

p.P405S

c.1213C>T

2 papers

NM_003931.3

p.V406L

c.1216G>T

1 paper

NM_003931.3

p.C407R

c.1219T>C

1 paper

NM_003931.3

p.G380R

c.1138G>C

1 paper

NM_003931.3

p.G380R

c.1138G>A

1 paper

NM_003931.3

p.C407_E408del1

c.1221_1223delTCA

1 paper

NM_003931.3

p.P379T

c.1135C>A