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.T351A

c.1051A>G

Surrounding Variants

1 paper

NM_022785.4

p.H363Y

c.1087C>T

3 papers

NM_022785.4

p.R379K

c.1136G>A

1 paper

NM_022785.4

p.N380K

c.1140T>G

1 paper

NM_022785.4

p.N380K

c.1140T>A

1 paper

NM_022785.4

p.S381Splc

c.1142+6T>A

1 paper

NM_022785.4

p.K396E

c.1186A>G

1 paper

NM_022785.4

p.I415fs

c.1243_1244fs

1 paper

NM_022785.4

p.I415_N416delFs

c.1244_1247del4

1 paper

NM_022785.4

p.T417_K418Splc

c.1252-119A>G

1 paper

NM_022785.4

p.D420N

c.1258G>A

1 paper

NM_022785.4

p.P422P

c.1266G>A

1 paper

NM_022785.4

p.R429*

c.1285C>T