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

2 papers

NM_022785.4

p.T122S

c.364A>T

Surrounding Variants

2 papers

NM_022785.4

p.T122S

c.365C>G

1 paper

NM_022785.4

p.G136S

c.406G>A

1 paper

NM_022785.4

p.D113G

c.338A>G

1 paper

NM_022785.4

p.R108*

c.322C>T

5 papers

NM_022785.4

p.I63T

c.188T>C

1 paper

NM_022785.4

p.S56_R62del0

c.168_185del18

1 paper

NM_022785.4

p.R62L

c.185G>T

1 paper

NM_022785.4

p.D59N

c.175G>A