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.P644L

c.1931C>T

Surrounding Variants

2 papers

NM_172071.4

p.P637S

c.1909C>T

1 paper

NM_172071.4

p.S630C

c.1889C>G

1 paper

NM_172071.4

p.R626L

c.1877G>T

1 paper

NM_172071.4

p.R623P

c.1868G>C

1 paper

NM_172071.4

p.Y613C

c.1838A>G

2 papers

NM_172071.4

p.R688*

c.2062C>T

1 paper

NM_172071.4

p.S703L

c.2108C>T

1 paper

NM_172071.4

p.V705L

c.2113G>T

1 paper

NM_172071.4

p.V705L

c.2113G>C

4 papers

NM_172071.4

p.P706S

c.2116C>T

1 paper

NM_172071.4

p.Q713E

c.2137C>G

1 paper

NM_172071.4

p.Y719C

c.2156A>G