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.L34S

c.101T>C

Surrounding Variants

2 papers

NM_003931.3

p.A35A

c.105A>G

1 paper

NM_003931.3

p.I32_S33insFs

c.96_97insA

1 paper

NM_003931.3

p.I32F

c.94A>T

1 paper

NM_003931.3

p.I38M

c.114T>G

1 paper

NM_003931.3

p.V29A

c.86T>C

1 paper

NM_003931.3

p.C28F

c.83G>T

1 paper

NM_003931.3

p.C28S

c.83G>C

1 paper

NM_003931.3

p.Q40Q

c.120A>G

1 paper

NM_003931.3

p.Q40insFs

c.119dupA

1 paper

NM_003931.3

p.E27K

c.79G>A

1 paper

NM_003931.3

p.L26Q

c.77T>A

1 paper

NM_003931.3

p.E25_L26insFs

c.75_76insA