Varaico: Literature-Extracted Genetic Variants

WASL

139 papers

RefSeq Summary

This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules t...

Pfam Domains

WH1aa 31–138UCSCWH1 domain

PBDaa 202–261UCSCP21-Rho-binding domain

WH2aa 403–429UCSCWH2 motif

WH2aa 430–457UCSCWH2 motif

Gene Aliases

HGNC Name

WASP like actin nucleation promoting factor

HGNC Alias Symbols

N-WASP; NWASP; WASPB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003941.4

p.S426C

c.1276A>T

Surrounding Variants

1 paper

NM_003941.4

p.V422fs

c.1264_1265fs

1 paper

NM_003941.4

p.R442*

c.1324C>T

1 paper

NM_003941.4

p.R442Q

c.1325G>A

1 paper

NM_003941.4

p.Q443R

c.1328A>G

1 paper

NM_003941.4

p.L447L

c.1339C>T

1 paper

NM_003941.4

p.S449_V450Splc

c.1347+2T>A

1 paper

NM_003941.4

p.S393F

c.1178C>T

1 paper

NM_003941.4

p.P380L

c.1139C>T

2 papers

NM_003941.4

p.P375L

c.1124C>T

1 paper

NM_003941.4

p.P375Q

c.1124C>A

1 paper

NM_003941.4

p.P373P

c.1119A>C

1 paper

NM_003941.4

p.S352A

c.1054T>G