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.F487L

c.1459T>C

Surrounding Variants

1 paper

NM_022785.4

p.F487L

c.1461C>G

1 paper

NM_022785.4

p.F487L

c.1461C>A

1 paper

NM_022785.4

p.V498F

c.1492G>T

1 paper

NM_022785.4

p.G522G

c.1566G>A

1 paper

NM_022785.4

p.G558A

c.1673G>C

1 paper

NM_198856.3

p.F487L

c.1459T>C

1 paper

NM_198856.3

p.F487L

c.1461C>G

1 paper

NM_198856.3

p.F487L

c.1461C>A

1 paper

NM_022785.4

p.R642*

c.1924C>T

1 paper

NM_022785.4

p.R642G

c.1924C>G

1 paper

NM_022785.4

p.S442*

c.1325C>G

1 paper

NM_022785.4

p.S442*

c.1325C>A