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

Selected Variant

10 papers

NM_017999.5

p.Q584H

c.1752G>C

Surrounding Variants

10 papers

NM_017999.5

p.Q584H

c.1752G>T

1 paper

NM_017999.5

p.Q584L

c.1751A>T

1 paper

NM_017999.5

p.K579_V580Splc

c.1737+40G>A

8 papers

NM_017999.5

p.Q622L

c.1865A>T

1 paper

NM_017999.5

p.Q622H

c.1866G>C

1 paper

NM_017999.5

p.Q622H

c.1866G>T

1 paper

NM_017999.5

p.R623S

c.1867C>A

3 papers

NM_017999.5

p.K579_V580Splc

c.1737+3A>G

1 paper

NM_017999.5

p.K579R

c.1736A>G

1 paper

NM_017999.5

p.G628fs

c.1882_1883fs

1 paper

NM_017999.5

p.G628A

c.1883G>C

1 paper

NM_017999.5

p.K640R

c.1919A>G