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.R219*

c.655A>T

Surrounding Variants

1 paper

NM_172071.4

p.V221A

c.662T>C

1 paper

NM_172071.4

p.F225S

c.674T>C

1 paper

NM_172071.4

p.E212K

c.634G>A

1 paper

NM_172071.4

p.R233Q

c.698G>A

16 papers

NM_172071.4

p.M199R

c.596T>G

1 paper

NM_172071.4

p.T240A

c.718A>G

1 paper

NM_172071.4

p.Q247R

c.740A>G

1 paper

NM_172071.4

p.V187L

c.559G>T

1 paper

NM_172071.4

p.V187L

c.559G>C

1 paper

NM_172071.4

p.S160Y

c.479C>A

2 papers

NM_172071.4

p.R153C

c.457C>T

2 papers

NM_172071.4

p.V146A

c.437T>C