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.C403delFs

c.1209delT

Surrounding Variants

22 papers

NM_003958.4

p.C403S

c.1208G>C

22 papers

NM_003958.4

p.C403S

c.1207T>A

1 paper

NM_003958.4

p.L401V

c.1201C>G

6 papers

NM_003958.4

p.C406S

c.1216T>A

6 papers

NM_003958.4

p.C406S

c.1217G>C

2 papers

NM_003958.4

p.E400K

c.1198G>A

1 paper

NM_003958.4

p.E398Q

c.1192G>C

1 paper

NM_003958.4

p.M393I

c.1179G>A

1 paper

NM_003958.4

p.M393I

c.1179G>C

1 paper

NM_003958.4

p.M393I

c.1179G>T

1 paper

NM_003958.4

p.K376_E377Splc

c.1128+1G>A

1 paper

NM_003958.4

p.E412_A413Splc

c.1237-6C>T