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.P369S

c.1105C>T

Surrounding Variants

1 paper

NM_003931.3

p.P369L

c.1106C>T

1 paper

NM_003931.3

p.V368G

c.1103T>G

1 paper

NM_003931.3

p.P372T

c.1114C>A

1 paper

NM_003931.3

p.P372L

c.1115C>T

1 paper

NM_003931.3

p.A373A

c.1119T>C

1 paper

NM_003931.3

p.P374S

c.1120C>T

1 paper

NM_003931.3

p.Q376*

c.1126C>T

1 paper

NM_003931.3

p.T361S

c.1081A>T

1 paper

NM_003931.3

p.A378S

c.1132G>T

1 paper

NM_003931.3

p.A378P

c.1132G>C

1 paper

NM_003931.3

p.A378V

c.1133C>T

1 paper

NM_003931.3

p.P359L

c.1076C>T