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.V31_L32insFs

c.93_94insT

Surrounding Variants

1 paper

NM_005864.4

p.R27delFs

c.79delG

1 paper

NM_005864.4

p.S25S

c.75C>T

1 paper

NM_005864.4

p.E38Q

c.112G>C

1 paper

NM_005864.4

p.G42G

c.126A>G

1 paper

NM_005864.4

p.W46R

c.136T>C

1 paper

NM_005864.4

p.S50F

c.149C>T

1 paper

NM_005864.4

p.L9R

c.26T>G

1 paper

NM_005864.4

p.Q55*

c.163C>T

1 paper

NM_005864.4

p.T7A

c.19A>G

1 paper

NM_005864.4

p.R62G

c.184A>G

1 paper

NM_005864.4

p.K64E

c.190A>G

1 paper

NM_005864.4

p.L65F

c.193C>T