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.D324N

c.970G>A

Surrounding Variants

1 paper

NM_017999.5

p.D324H

c.970G>C

1 paper

NM_017999.5

p.D324Y

c.970G>T

1 paper

NM_017999.5

p.D324V

c.971A>T

1 paper

NM_017999.5

p.R325W

c.973C>T

1 paper

NM_017999.5

p.V321E

c.962T>A

1 paper

NM_017999.5

p.K330R

c.989A>G

1 paper

NM_017999.5

p.G333E

c.998G>A

1 paper

NM_017999.5

p.A310A

c.930C>A

1 paper

NM_017999.5

p.H305D

c.913C>G

1 paper

NM_017999.5

p.W304*

c.912G>A

1 paper

NM_017999.5

p.W304*

c.911G>A

1 paper

NM_017999.5

p.L302F

c.906G>C