Varaico: Literature-Extracted Genetic Variants

RC3H1

109 papers

RefSeq Summary

This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRN...

Pfam Domains

zf-RING_5aa 13–55UCSCzinc-RING finger domain

Roquin_1_2-like_ROQaa 182–268UCSCRoquin 1/2-like, ROQ domain

ROQ_IIaa 271–326UCSCRoquin II domain

Gene Aliases

HGNC Name

ring finger and CCCH-type domains 1

HGNC Alias Symbols

KIAA2025; roquin; RP5-1198E17.5; RNF198

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_172071.4

p.I547V

c.1639A>G

Surrounding Variants

1 paper

NM_172071.4

p.P558T

c.1672C>A

1 paper

NM_172071.4

p.P559L

c.1676C>T

1 paper

NM_172071.4

p.G561insFs

c.1683dupG

1 paper

NM_172071.4

p.P562fs

c.1684_1685fs

1 paper

NM_172071.4

p.T589M

c.1766C>T

1 paper

NM_172071.4

p.D590V

c.1769A>T

1 paper

NM_172071.4

p.Y593F

c.1778A>T

1 paper

NM_172071.4

p.P537S

c.1609C>T

2 papers

NM_172071.4

p.H527Y

c.1579C>T

1 paper

NM_172071.4

p.R510*

c.1528C>T

1 paper

NM_172071.4

p.L507F

c.1519C>T

1 paper

NM_172071.4

p.G501E

c.1502G>A