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.P141S

c.421C>T

Surrounding Variants

1 paper

NM_005864.4

p.A140D

c.419C>A

1 paper

NM_005864.4

p.A144S

c.430G>T

1 paper

NM_005864.4

p.G135R

c.403G>A

1 paper

NM_005864.4

p.A133G

c.398C>G

1 paper

NM_005864.4

p.P124L

c.371C>T

1 paper

NM_005864.4

p.C120R

c.358T>C

1 paper

NM_005864.4

p.P115delFs

c.343delG

1 paper

NM_005864.4

p.P109S

c.325C>T

1 paper

NM_005864.4

p.Y148Y

c.444C>T

1 paper

NM_005864.4

p.V150delFs

c.449delA

1 paper

NM_005864.4

p.P152T

c.454C>A

1 paper

NM_005864.4

p.A154V

c.461C>T