Varaico: Literature-Extracted Genetic Variants

EFCAB6

107 papers

RefSeq Summary

This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to rep...

Pfam Domains

EF-hand_11aa 57–151UCSCEF-hand domain

EF-hand_8aa 419–471UCSCEF-hand domain pair

EF-hand_11aa 1160–1260UCSCEF-hand domain

EF-hand_7aa 1437–1500UCSCEF-hand domain pair

Gene Aliases

HGNC Name

EF-hand calcium binding domain 6

HGNC Alias Symbols

FLJ23588; DJBP; HSCBCIP1; KIAA1672; dJ185D5.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022785.4

p.L1212P

c.3635T>C

Surrounding Variants

1 paper

NM_022785.4

p.E1215K

c.3643G>A

1 paper

NM_022785.4

p.R1207C

c.3619C>T

1 paper

NM_022785.4

p.D1189E

c.3567C>G

1 paper

NM_022785.4

p.D1189E

c.3567C>A

1 paper

NM_022785.4

p.F1188delFs

c.3563_3564delAA

1 paper

NM_022785.4

p.E1186Q

c.3556G>C

3 papers

NM_022785.4

p.P1150S

c.3448C>T