Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007294.4

p.G1422R

c.4264G>A

Surrounding Variants

1 paper

NM_007294.4

p.G1422R

c.4264G>C

1 paper

NM_007294.4

p.H1421delFs

c.4263delA

1 paper

NM_007294.4

p.Q1420_H1421Fs

c.4258_4263delinsCFs

1 paper

NM_007294.4

p.H1421Q

c.4263T>G

1 paper

NM_007294.4

p.H1421Q

c.4263T>A

7 papers

NM_007294.4

p.G1422E

c.4265G>A

1 paper

NM_007297.4

p.G1375Fs

c.4125delinsCACAGFs

1 paper

NM_007294.4

p.G1422G

c.4266G>A

3 papers

NM_007294.4

p.H1421L

c.4262A>T

11 papers

NM_007294.4

p.H1421R

c.4262A>G

27 papers

NM_007294.4

p.H1421Y

c.4261C>T

2 papers

NM_007294.4

p.H1421N

c.4261C>A