Varaico: Literature-Extracted Genetic Variants

RNF8

117 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH...

Pfam Domains

FHAaa 38–109UCSCFHA domain

zf-C3HC4_3aa 399–447UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 8

HGNC Alias Symbol

KIAA0646

Papers

RefSeq ID

Protein change

DNA change

1–12 of 57 variants

22 papers

NM_003958.4

p.C403S

c.1207T>A

22 papers

NM_003958.4

p.C403S

c.1208G>C

6 papers

NM_003958.4

p.C406S

c.1216T>A

6 papers

NM_003958.4

p.C406S

c.1217G>C

4 papers

NM_003958.4

p.T448T

c.1344G>A

2 papers

NM_003958.4

p.R61Q

c.182G>A

2 papers

NM_003958.4

p.T198A

c.592A>G

2 papers

NM_003958.4

p.M271R

c.812T>G

2 papers

NM_003958.4

p.E400K

c.1198G>A

1 paper

NM_003958.4

p.M1V

c.1A>G

1 paper

NM_003958.4

p.V8A

c.23T>C

1 paper

NM_003958.4

p.R12R

c.36C>T