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

3 papers

NM_022785.4

p.V1456I

c.4366G>A

Surrounding Variants

2 papers

NM_022785.4

p.A1457T

c.4369G>A

1 paper

NM_022785.4

p.G1450V

c.4349G>T

1 paper

NM_022785.4

p.T1418M

c.4253C>T

1 paper

NM_022785.4

p.M1411_K1412Splc

c.4234-1G>A

1 paper

NM_022785.4

p.M1411_K1412Splc

c.4234-8G>A

1 paper

NM_022785.4

p.E1473*

c.4417G>T

1 paper

NM_022785.4

p.E1474K

c.4420G>A

1 paper

NM_022785.4

p.T1485M

c.4454C>T

2 papers

NM_022785.4

p.R1497W

c.4489C>T

1 paper

NM_022785.4

p.A1394_K1395insFs

c.4182_4183insG

1 paper

NM_022785.4

p.N1344N

c.4032C>T

3 papers

NM_022785.4

p.Q1340delFs

c.4019_4020delCT