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.P313L

c.938C>T

Surrounding Variants

1 paper

NM_005864.4

p.P313A

c.937C>G

1 paper

NM_005864.4

p.R305C

c.913C>T

1 paper

NM_005864.4

p.P322S

c.964C>T

1 paper

NM_005864.4

p.P322A

c.964C>G

1 paper

NM_005864.4

p.R304G

c.910C>G

1 paper

NM_005864.4

p.S323F

c.968C>T

1 paper

NM_005864.4

p.S323C

c.968C>G

1 paper

NM_005864.4

p.P297L

c.890C>T

1 paper

NM_005864.4

p.P297R

c.890C>G

1 paper

NM_005864.4

p.P290H

c.869C>A

2 papers

NM_005864.4

p.R343P

c.1028G>C

1 paper

NM_005864.4

p.L344M

c.1030C>A