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

Selected Variant

1 paper

NM_003958.4

p.K274Q

c.820A>C

Surrounding Variants

2 papers

NM_003958.4

p.M271R

c.812T>G

1 paper

NM_003958.4

p.A236T

c.706G>A

1 paper

NM_003958.4

p.K315T

c.944A>C

1 paper

NM_003958.4

p.F224S

c.671T>C

1 paper

NM_003958.4

p.K214R

c.641A>G

2 papers

NM_003958.4

p.T198A

c.592A>G

1 paper

NM_003958.4

p.S180C

c.539C>G

1 paper

NM_003958.4

p.F156I

c.466T>A

1 paper

NM_003958.4

p.E145K

c.433G>A

1 paper

NM_003958.4

p.M143I

c.429G>A

1 paper

NM_003958.4

p.M143I

c.429G>C

1 paper

NM_003958.4

p.M143I

c.429G>T