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

Selected Variant

1 paper

NM_006978.3

p.R266R

c.798C>A

Surrounding Variants

1 paper

NM_006978.3

p.R278K

c.833G>A

1 paper

NM_006978.3

p.D255N

c.763G>A

1 paper

NM_006978.3

p.G242V

c.725G>T

2 papers

NM_006978.3

p.C299*

c.897T>A

2 papers

NM_006978.3

p.C299_D300delFs

c.897_898delCA

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.Q301_N304delFs

c.903_910del8

2 papers

NM_006978.3

p.G212D

c.635G>A

1 paper

NM_006978.3

p.G212S

c.634G>A

1 paper

NM_006978.3

p.R194C

c.580C>T

1 paper

NM_006978.3

p.P186T

c.556C>A