Varaico: Literature-Extracted Genetic Variants

SH3RF1

57 papers

RefSeq Summary

This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to...

Pfam Domains

zf-C3HC4_2aa 11–52UCSCZinc finger, C3HC4 type (RING finger)

SH3_1aa 140–185UCSCSH3 domain

SH3_1aa 202–251UCSCSH3 domain

SH3_9aa 452–502UCSCVariant SH3 domain

SH3_9aa 836–886UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 domain containing ring finger 1

HGNC Previous Symbol

SH3MD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020870.4

p.P80P

c.240T>G

Surrounding Variants

1 paper

NM_020870.4

p.P80P

c.240T>A

1 paper

NM_020870.4

p.G84V

c.251G>T

1 paper

NM_020870.4

p.V70D

c.209T>A

1 paper

NM_020870.4

p.S99P

c.295T>C

1 paper

NM_020870.4

p.G59V

c.176G>T

1 paper

NM_020870.4

p.L55H

c.164T>A

1 paper

NM_020870.4

p.R44Q

c.131G>A

1 paper

NM_020870.4

p.S43F

c.128C>T

1 paper

NM_020870.4

p.G39E

c.116G>A

1 paper

NM_020870.4

p.R122Q

c.365G>A

1 paper

NM_020870.4

p.R35*

c.103C>T

1 paper

NM_020870.4

p.P129S

c.385C>T