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

2 papers

NM_003931.3

p.G422E

c.1265G>A

Surrounding Variants

1 paper

NM_003931.3

p.Q421H

c.1263G>C

1 paper

NM_003931.3

p.P427L

c.1280C>T

1 paper

NM_003931.3

p.V420_P428del0

c.1259_1282del24

1 paper

NM_003931.3

p.P429fs

c.1285_1286fs

1 paper

NM_003931.3

p.P429delFs

c.1285delG

1 paper

NM_003931.3

p.H413insFs

c.1238_1239insA

1 paper

NM_003931.3

p.P431S

c.1291C>T

2 papers

NM_003931.3

p.L432L

c.1296G>T

1 paper

NM_003931.3

p.V412F

c.1234G>T

1 paper

NM_003931.3

p.P434S

c.1300C>T

1 paper

NM_003931.3

p.C407_E408del1

c.1221_1223delTCA

2 papers

NM_003931.3

p.G436D

c.1307G>A