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.S438S

c.1314A>G

Surrounding Variants

1 paper

NM_001378122.1

p.K442R

c.1325A>G

1 paper

NM_001378122.1

p.P434P

c.1302C>A

1 paper

NM_001378122.1

p.S431A

c.1291T>G

1 paper

NM_001378122.1

p.L425_S428del4

c.1273_1283del12

1 paper

NM_001378122.1

p.P448H

c.1343C>A

1 paper

NM_001378122.1

p.R449insFs

c.1346_1347insA

1 paper

NM_001378122.1

p.P422L

c.1265C>T

1 paper

NM_001378122.1

p.P422_L423ins9

c.1264_1268ins27

1 paper

NM_001378122.1

p.A419ins2

c.1255_1256ins6

1 paper

NM_001378122.1

p.S461P

c.1381T>C

1 paper

NM_001378122.1

p.K413insFs

c.1238_1239insA

1 paper

NM_001378122.1

p.K413delFs

c.1238delT