Varaico: Literature-Extracted Genetic Variants

NEDD9

213 papers

RefSeq Summary

The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transdu...

Pfam Domains

SH3_9aa 10–61UCSCVariant SH3 domain

Serine_richaa 255–411UCSCSerine rich protein interaction domain

CAS_Caa 470–679UCSCCrk-Associated Substrate C-terminal domain

Gene Aliases

HGNC Name

neural precursor cell expressed, developmentally down-regulated 9

HGNC Alias Symbols

HEF1; CAS-L; CASS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006403.4

p.N519K

c.1557C>G

Surrounding Variants

1 paper

NM_006403.4

p.N519K

c.1557C>A

1 paper

NM_006403.4

p.L513L

c.1537C>T

1 paper

NM_006403.4

p.R530Q

c.1589G>A

1 paper

NM_006403.4

p.T502P

c.1504A>C

1 paper

NM_006403.4

p.A542T

c.1624G>A

1 paper

NM_006403.4

p.I549fs

c.1645_1646fs

1 paper

NM_006403.4

p.I549delFs

c.1645delT

2 papers

NM_006403.4

p.R487Q

c.1460G>A

1 paper

NM_006403.4

p.L564_H565insFs

c.1692_1693insT

2 papers

NM_006403.4

p.A471G

c.1412C>G

1 paper

NM_006403.4

p.G569W

c.1705G>T

1 paper

NM_006403.4

p.S576L

c.1727C>T