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.H466Y

c.1396C>T

Surrounding Variants

1 paper

NM_003931.3

p.G464V

c.1391G>T

2 papers

NM_003931.3

p.P463A

c.1387C>G

1 paper

NM_003931.3

p.A462D

c.1385C>A

1 paper

NM_003931.3

p.T461I

c.1382C>T

1 paper

NM_003931.3

p.P475L

c.1424C>T

1 paper

NM_003931.3

p.H456R

c.1367A>G

1 paper

NM_003931.3

p.G454G

c.1362G>C

1 paper

NM_003931.3

p.G454G

c.1362G>A

1 paper

NM_003931.3

p.P451Fs

c.1352delinsACFs

1 paper

NM_003931.3

p.A481V

c.1442C>T

1 paper

NM_003931.3

p.H450R

c.1349A>G

1 paper

NM_003931.3

p.H450Y

c.1348C>T