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

1 paper

NM_007294.4

p.K428*

c.1282A>T

Surrounding Variants

2 papers

NM_007294.4

p.K428E

c.1282A>G

1 paper

NM_007294.4

p.E427E

c.1281G>A

1 paper

NM_007294.4

p.E427delFs

c.1280_1281delCT

1 paper

NM_007294.4

p.S426_K428del0

c.1277_1282del6

2 papers

NM_007294.4

p.K428N

c.1284A>T

1 paper

NM_007294.4

p.E427V

c.1280A>T

2 papers

NM_007294.4

p.E427G

c.1280A>G

1 paper

NM_007294.4

p.K428K

c.1284A>G

2 papers

NM_007294.4

p.K428N

c.1284A>C

1 paper

NM_007294.4

p.K428_I429insFs

c.1284_1285insTT

1 paper

NM_007294.4

p.K428fs

c.1282_1283fs

9 papers

NM_007294.4

p.E427*

c.1279G>T