Varaico: Literature-Extracted Genetic Variants

EFS

70 papers

RefSeq Summary

The protein encoded by this gene is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These c...

Pfam Domains

SH3_9aa 12–64UCSCVariant SH3 domain

CAS_Caa 371–556UCSCCrk-Associated Substrate C-terminal domain

Gene Aliases

HGNC Name

embryonal Fyn-associated substrate

HGNC Alias Symbols

EFS2; EFS1; HEFS; CASS3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005864.4

p.L257L

c.769C>T

Surrounding Variants

1 paper

NM_005864.4

p.P256T

c.766C>A

1 paper

NM_005864.4

p.V255M

c.763G>A

1 paper

NM_005864.4

p.D254N

c.760G>A

1 paper

NM_005864.4

p.I252N

c.755T>A

1 paper

NM_005864.4

p.P263S

c.787C>T

1 paper

NM_005864.4

p.A262_P263del2

c.784_788del6

1 paper

NM_005864.4

p.G247A

c.740G>C

1 paper

NM_005864.4

p.G247R

c.739G>C

1 paper

NM_005864.4

p.G247S

c.739G>A

1 paper

NM_005864.4

p.E267fs

c.799_800fs

1 paper

NM_005864.4

p.E267delFs

c.800_801delCT

2 papers

NM_005864.4

p.G245S

c.733G>A