Varaico: Literature-Extracted Genetic Variants

RNF113A

33 papers

RefSeq Summary

This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is id...

Pfam Domains

zf-CCCHaa 197–223UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

zf-C3HC4_3aa 259–306UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 113A

HGNC Previous Symbol

ZNF183

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

9 papers

NM_006978.3

p.Q301*

c.901C>T

3 papers

NM_006978.3

p.Q302fs

c.904_905fs

2 papers

NM_006978.3

p.G212D

c.635G>A

2 papers

NM_006978.3

p.C299*

c.897T>A

2 papers

NM_006978.3

p.C299_D300delFs

c.897_898delCA

2 papers

NM_006978.3

p.Q301_N304delFs

c.903_910del8

1 paper

NM_006978.3

p.Q4insFs

c.11dupA

1 paper

NM_006978.3

p.G26R

c.76G>C

1 paper

NM_006978.3

p.G26R

c.76G>A

1 paper

NM_006978.3

p.A28V

c.83C>T

1 paper

NM_006978.3

p.R30H

c.89G>A

1 paper

NM_006978.3

p.D48E

c.144C>A