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.R959K

c.2876G>A

Surrounding Variants

1 paper

NM_007294.4

p.R959S

c.2877A>T

1 paper

NM_007294.4

p.R959*

c.2875A>T

2 papers

NM_007294.4

p.R959G

c.2875A>G

2 papers

NM_007294.4

p.R959S

c.2877A>C

2 papers

NM_007294.4

p.F958_R959delFs

c.2872_2876del5

1 paper

NM_007294.4

p.F958L

c.2874C>G

1 paper

NM_007294.4

p.F958L

c.2874C>A

1 paper

NM_007294.4

p.F958S

c.2873T>C

1 paper

NM_007294.4

p.S956_Q957del2

c.2866_2870del6

1 paper

NM_007294.4

p.L954_F958delFs

c.2860_2872del13

2 papers

NM_007294.4

p.G960D

c.2879G>A

1 paper

NM_007294.4

p.F958_R959insAC

c.2872_2876ins6