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.L245V

c.733C>G

Surrounding Variants

1 paper

NM_022785.4

p.N236T

c.707A>C

1 paper

NM_022785.4

p.S217L

c.650C>T

1 paper

NM_022785.4

p.E211K

c.631G>A

2 papers

NM_198856.3

p.R47G

c.139A>G

NM_022785.4

p.R199G

c.595A>G

1 paper

NM_022785.4

p.R193Q

c.578G>A

1 paper

NM_022785.4

p.N173D

c.517A>G

2 papers

NM_022785.4

p.K169_V170Splc

c.508-1G>C