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

1 paper

NM_005864.4

p.P72P

c.216C>T

Surrounding Variants

1 paper

NM_005864.4

p.A68T

c.202G>A

1 paper

NM_005864.4

p.P67S

c.199C>T

1 paper

NM_005864.4

p.L65P

c.194T>C

1 paper

NM_005864.4

p.S80F

c.239C>T

1 paper

NM_005864.4

p.L65F

c.193C>T

1 paper

NM_005864.4

p.K64E

c.190A>G

1 paper

NM_005864.4

p.Q83K

c.247C>A

1 paper

NM_005864.4

p.R62G

c.184A>G

1 paper

NM_005864.4

p.Y88C

c.263A>G

1 paper

NM_005864.4

p.Y88delFs

c.262_263delTA

1 paper

NM_005864.4

p.Q55*

c.163C>T

1 paper

NM_005864.4

p.H93_S94insT

c.277_281ins3