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.P354P

c.1062C>G

Surrounding Variants

1 paper

NM_003931.3

p.P355A

c.1063C>G

1 paper

NM_003931.3

p.P357S

c.1069C>T

1 paper

NM_003931.3

p.V352L

c.1054G>C

1 paper

NM_003931.3

p.P359L

c.1076C>T

1 paper

NM_003931.3

p.P349P

c.1047C>T

1 paper

NM_003931.3

p.P349H

c.1046C>A

1 paper

NM_003931.3

p.T361S

c.1081A>T

1 paper

NM_003931.3

p.T347N

c.1040C>A

1 paper

NM_003931.3

p.T345S

c.1033A>T

1 paper

NM_003931.3

p.M344T

c.1031T>C

1 paper

NM_003931.3

p.S336_S343delFs

c.1008_1029del22

12 papers

NM_003931.3

p.S343_M344insFs

c.1029_1030insT