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

1 paper

NM_017999.5

p.Q145P

c.434A>C

Surrounding Variants

1 paper

NM_017999.5

p.V146A

c.437T>C

1 paper

NM_017999.5

p.E139Q

c.415G>C

3 papers

NM_017999.5

p.L154M

c.460C>A

1 paper

NM_017999.5

p.E136K

c.406G>A

2 papers

NM_017999.5

p.L156H

c.467T>A

1 paper

NM_017999.5

p.G131A

c.392G>C

1 paper

NM_017999.5

p.P129L

c.386C>T

1 paper

NM_017999.5

p.Q128R

c.383A>G

1 paper

NM_017999.5

p.T125I

c.374C>T

1 paper

NM_017999.5

p.G123S

c.367G>A

1 paper

NM_017999.5

p.D117A

c.350A>C

1 paper

NM_017999.5

p.Q113K

c.337C>A