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.Q517fs

c.1549_1550fs

Surrounding Variants

1 paper

NM_003931.3

p.Q517Q

c.1551G>A

4 papers

NM_003931.3

p.Q520*

c.1558C>T

1 paper

NM_003931.3

p.K513E

c.1537A>G

1 paper

NM_003931.3

p.E525_R526insC

c.1573_1577ins3

2 papers

NM_003931.3

p.E525K

c.1573G>A

1 paper

NM_003931.3

p.D530N

c.1588G>A

2 papers

NM_003931.3

p.T533A

c.1597A>G

1 paper

NM_003931.3

p.R526_I534del9

c.1576_1601del27

1 paper

NM_003931.3

p.R537C

c.1609C>T

1 paper

NM_003931.3

p.R537R

c.1611C>T

1 paper

NM_003931.3

p.V541V

c.1623T>G

2 papers

NM_003931.3

p.E542Q

c.1624G>C