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

1–12 of 116 variants

16 papers

NM_172071.4

p.M199R

c.596T>G

4 papers

NM_172071.4

p.P706S

c.2116C>T

3 papers

NM_172071.4

p.P935A

c.2803C>G

2 papers

NM_172071.4

p.V146A

c.437T>C

2 papers

NM_172071.4

p.R153C

c.457C>T

2 papers

NM_172071.4

p.D368N

c.1102G>A

2 papers

NM_172071.4

p.R456T

c.1367G>C

2 papers

NM_172071.4

p.H527Y

c.1579C>T

2 papers

NM_172071.4

p.P637S

c.1909C>T

2 papers

NM_172071.4

p.R688*

c.2062C>T

2 papers

NM_172071.4

p.V833G

c.2498T>G

2 papers

NM_172071.4

p.G921S

c.2761G>A