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.G213R

c.637G>A

Surrounding Variants

1 paper

NM_005864.4

p.P214L

c.641C>T

1 paper

NM_005864.4

p.A219T

c.655G>A

1 paper

NM_005864.4

p.E199D

c.597G>C

1 paper

NM_005864.4

p.A228D

c.683C>A

1 paper

NM_005864.4

p.A235S

c.703G>T

1 paper

NM_005864.4

p.V190L

c.568G>T

1 paper

NM_005864.4

p.V190L

c.568G>C

1 paper

NM_005864.4

p.V190M

c.568G>A

1 paper

NM_005864.4

p.P187S

c.559C>T

1 paper

NM_005864.4

p.A186V

c.557C>T

1 paper

NM_005864.4

p.A186G

c.557C>G

1 paper

NM_005864.4

p.A241T

c.721G>A