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.R67W

c.199C>T

Surrounding Variants

2 papers

NM_001378122.1

p.S65Splc

c.194-3C>G

1 paper

NM_001378122.1

p.I70I

c.210T>A

1 paper

NM_001378122.1

p.Q71Q

c.213G>A

1 paper

NM_001378122.1

p.S72I

c.215G>T

1 paper

NM_001378122.1

p.S72N

c.215G>A

1 paper

NM_001378122.1

p.E73*

c.217G>T

2 papers

NM_001378122.1

p.S72_E73insFs

c.216_217insT

2 papers

NM_001378122.1

p.E73K

c.217G>A

1 paper

NM_001378122.1

p.L74H

c.221T>A

1 paper

NM_001378122.1

p.R79Splc

c.237-14C>T

2 papers

NM_001378122.1

p.R80C

c.238C>T

1 paper

NM_001378122.1

p.R80P

c.239G>C