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

2 papers

NM_001378122.1

p.A543insFs

c.1627_1628insG

Surrounding Variants

1 paper

NM_001378122.1

p.P545S

c.1633C>T

1 paper

NM_001378122.1

p.C548Splc

c.1642+2T>C

1 paper

NM_001378122.1

p.R526P

c.1577G>C

1 paper

NM_001378122.1

p.P517L

c.1550C>T

1 paper

NM_001378122.1

p.C548Splc

c.1643-1G>T

1 paper

NM_001378122.1

p.C548Splc

c.1643-1G>C

6 papers

NM_001378122.1

p.Q554R

c.1661A>G

1 paper

NM_001378122.1

p.S555_P556del2

c.1663_1667del6

1 paper

NM_001378122.1

p.P558L

c.1673C>T

1 paper

NM_001378122.1

p.P558P

c.1674T>C

1 paper

NM_001378122.1

p.S577T

c.1730G>C

1 paper

NM_001378122.1

p.R583_N584insATG

c.1747_1751ins9