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.Q1340delFs

c.4019_4020delCT

Surrounding Variants

4 papers

NM_022785.4

p.Q1340fs

c.4018_4019fs

1 paper

NM_022785.4

p.Q1340fs

c.4018_4019fs

1 paper

NM_022785.4

p.N1344N

c.4032C>T

1 paper

NM_022785.4

p.V1337M

c.4009G>A

1 paper

NM_022785.4

p.D1336D

c.4008C>T

1 paper

NM_022785.4

p.D1336N

c.4006G>A

1 paper

NM_022785.4

p.L1329_K1330insFs

c.3987_3988insG

1 paper

NM_022785.4

p.L1329insFs

c.3986dupT

1 paper

NM_022785.4

p.Q1322*

c.3964C>T

1 paper

NM_022785.4

p.S1315fs

c.3943_3944fs

1 paper

NM_022785.4

p.V1300M

c.3898G>A

1 paper

NM_022785.4

p.A1394_K1395insFs

c.4182_4183insG