Varaico: Literature-Extracted Genetic Variants

SH3D19

661 papers

RefSeq Summary

This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppressio...

Pfam Domains

SH3_2aa 419–472UCSCVariant SH3 domain

SH3_1aa 501–546UCSCSH3 domain

SH3_1aa 577–622UCSCSH3 domain

Gene Aliases

HGNC Name

SH3 domain containing 19

HGNC Alias Symbols

DKFZp434D0215; EVE1; Kryn; SH3P19; Eve-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001378122.1

p.N149D

c.445A>G

Surrounding Variants

1 paper

NM_001378122.1

p.N149S

c.446A>G

1 paper

NM_001378122.1

p.V142_N143delFs

c.425_428del4

1 paper

NM_001378122.1

p.V142_N143delFs

c.424_428del5

1 paper

NM_001378122.1

p.Q141ins3

c.422_423ins9

1 paper

NM_001378122.1

p.I134delFs

c.400delT

1 paper

NM_001378122.1

p.I134L

c.400A>T

1 paper

NM_001378122.1

p.Q132E

c.394C>G

1 paper

NM_001378122.1

p.Q132K

c.394C>A

1 paper

NM_001378122.1

p.F166insFs

c.497_498insA

1 paper

NM_001378122.1

p.E131G

c.392A>G

1 paper

NM_001378122.1

p.E168K

c.502G>A

1 paper

NM_001378122.1

p.E169A

c.506A>C