Varaico: Literature-Extracted Genetic Variants

Gene:SH3D19
Variant:p.L31insFs

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_2aa 419–472UCSCVariant SH3 domain
SH3_1aa 501–546UCSCSH3 domain
SH3_1aa 501–546UCSCSH3 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.L31insFs
c.91_92insC
Surrounding Variants
1 paper
NM_001378122.1
p.L31F
c.91C>T
1 paper
NM_001378122.1
p.S32W
c.95C>G
1 paper
NM_001378122.1
p.A30P
c.88G>C
1 paper
NM_001378122.1
p.R29R
c.87T>C
1 paper
NM_001378122.1
p.G33S
c.97G>A
1 paper
NM_001378122.1
p.G33D
c.98G>A
1 paper
NM_001378122.1
p.H34D
c.100C>G
1 paper
NM_001378122.1
p.H34H
c.102C>T
1 paper
NM_001378122.1
p.S35S
c.105G>C
1 paper
NM_001378122.1
p.S35S
c.105G>A
1 paper
NM_001378122.1
p.A26P
c.76G>C
1 paper
NM_001378122.1
p.R25C
c.73C>T
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