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.S51Splc

c.153-2A>G

Surrounding Variants

1 paper

NM_001378122.1

p.P54T

c.160C>A

3 papers

NM_001378122.1

p.S56insFs

c.167_168insT

1 paper

NM_001378122.1

p.R59G

c.175A>G

1 paper

NM_001378122.1

p.R59K

c.176G>A

1 paper

NM_001378122.1

p.R59R

c.177A>G

1 paper

NM_001378122.1

p.I62delFs

c.185delA

1 paper

NM_001378122.1

p.S56_I62del0

c.168_185del18

2 papers

NM_001378122.1

p.S65Splc

c.193+1G>T

3 papers

NM_001378122.1

p.S65Splc

c.193+1G>A

2 papers

NM_001378122.1

p.S65Splc

c.193+2T>G

2 papers

NM_001378122.1

p.S65Splc

c.194-3C>G

1 paper

NM_001378122.1

p.R67W

c.199C>T