Varaico: Literature-Extracted Genetic Variants

RNF31

247 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The en...

Pfam Domains

PUB_1aa 1–65UCSCPNGase/UBA- or UBX-containing domain

PUBaa 69–150UCSCPUB domain

UBA_HOIPaa 483–628UCSCHOIP UBA domain pair

UBA_RNF31aa 631–685UCSCE3 ubiquitin-protein ligase RNF31, UBA domain

IBR_1aa 794–843UCSCIBR domain

IBR_1aa 866–925UCSCIBR domain

Gene Aliases

HGNC Name

ring finger protein 31

HGNC Alias Symbols

ZIBRA; FLJ10111; FLJ23501; HOIP; Paul

Papers

RefSeq ID

Protein change

DNA change

1–12 of 199 variants

21 papers

NM_017999.5

p.C885S

c.2653T>A

21 papers

NM_017999.5

p.C885S

c.2654G>C

12 papers

NM_017999.5

p.L72P

c.215T>C

10 papers

NM_017999.5

p.Q584H

c.1752G>C

10 papers

NM_017999.5

p.Q584H

c.1752G>T

8 papers

NM_017999.5

p.Q622L

c.1865A>T

5 papers

NM_017999.5

p.Q399H

c.1197G>C

4 papers

NM_017999.5

p.Q399H

c.1197G>T

3 papers

NM_017999.5

p.L154M

c.460C>A

3 papers

NM_017999.5

p.K579_V580Splc

c.1737+3A>G

3 papers

NM_017999.5

p.C702S

c.2104T>A

3 papers

NM_017999.5

p.C702S

c.2105G>C