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.L344M

c.1030C>A

Surrounding Variants

2 papers

NM_005864.4

p.R343P

c.1028G>C

1 paper

NM_005864.4

p.G348R

c.1042G>C

1 paper

NM_005864.4

p.G348R

c.1042G>A

1 paper

NM_005864.4

p.G348_P350insFs

c.1044_1050dup7

1 paper

NM_005864.4

p.V352I

c.1054G>A

1 paper

NM_005864.4

p.G354R

c.1060G>A

1 paper

NM_005864.4

p.G358R

c.1072G>C

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.P365L

c.1094C>T

1 paper

NM_005864.4

p.P322S

c.964C>T

1 paper

NM_005864.4

p.P322A

c.964C>G