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.M518I

c.1554G>T

Surrounding Variants

1 paper

NM_020870.4

p.M518I

c.1554G>C

1 paper

NM_020870.4

p.M518I

c.1554G>A

1 paper

NM_020870.4

p.T535M

c.1604C>T

1 paper

NM_020870.4

p.P569S

c.1705C>T

2 papers

NM_020870.4

p.P569fs

c.1705_1706fs

3 papers

NM_020870.4

p.P663S

c.1987C>T

1 paper

NM_020870.4

p.P497T

c.1489C>A

1 paper

NM_020870.4

p.Q479R

c.1436A>G

1 paper

NM_020870.4

p.R477H

c.1430G>A

1 paper

NM_020870.4

p.V474M

c.1420G>A

1 paper

NM_020870.4

p.V449M

c.1345G>A

1 paper

NM_020870.4

p.V449M

c.1345G>A