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.G401_D402del2

c.1201_1205del6

Surrounding Variants

1 paper

NM_017999.5

p.L405L

c.1213C>T

1 paper

NM_017999.5

p.R446fs

c.1336_1337fs

5 papers

NM_017999.5

p.Q399H

c.1197G>C

4 papers

NM_017999.5

p.Q399H

c.1197G>T

1 paper

NM_017999.5

p.K454R

c.1361A>G

1 paper

NM_017999.5

p.K458R

c.1373A>G

1 paper

NM_017999.5

p.G392C

c.1174G>T

1 paper

NM_017999.5

p.D390A

c.1169A>C

1 paper

NM_017999.5

p.S388F

c.1163C>T

1 paper

NM_017999.5

p.D387E

c.1161T>A

1 paper

NM_017999.5

p.D387E

c.1161T>G

1 paper

NM_017999.5

p.D387A

c.1160A>C