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

1–12 of 126 variants

4 papers

NM_006403.4

p.H294R

c.881A>G

4 papers

NM_006403.4

p.A728T

c.2182G>A

3 papers

NM_006403.4

p.P136Q

c.407C>A

3 papers

NM_006403.4

p.H276Y

c.826C>T

2 papers

NM_006403.4

p.Q84*

c.250C>T

2 papers

NM_006403.4

p.P148H

c.443C>A

2 papers

NM_006403.4

p.K153N

c.459G>C

2 papers

NM_006403.4

p.I216V

c.646A>G

2 papers

NM_006403.4

p.Y223C

c.668A>G

2 papers

NM_006403.4

p.L297L

c.889C>T

2 papers

NM_006403.4

p.S369A

c.1105T>G

2 papers

NM_006403.4

p.L459L

c.1377G>A