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

1–12 of 133 variants

5 papers

NM_022785.4

p.I63T

c.188T>C

4 papers

NM_022785.4

p.Q1340fs

c.4018_4019fs

3 papers

NM_022785.4

p.R379K

c.1136G>A

3 papers

NM_022785.4

p.P1150S

c.3448C>T

3 papers

NM_022785.4

p.E1223K

c.3667G>A

3 papers

NM_022785.4

p.Q1340delFs

c.4019_4020delCT

3 papers

NM_022785.4

p.V1456I

c.4366G>A

2 papers

NM_022785.4

p.T122S

c.364A>T

2 papers

NM_022785.4

p.T122S

c.365C>G

2 papers

NM_022785.4

p.K169_V170Splc

c.508-1G>C

2 papers

NM_022785.4

p.T351A

c.1051A>G

2 papers

NM_022785.4

p.A1457T

c.4369G>A