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.L159F

c.475C>T

Surrounding Variants

2 papers

NM_007294.4

p.L159V

c.475C>G

1 paper

NM_007294.4

p.S157_N158del2

c.469_473del6

1 paper

NM_007294.4

p.T150_N158del0

c.450_473del24

2 papers

NM_007294.4

p.L159R

c.476T>G

2 papers

NM_007294.4

p.L159P

c.476T>C

1 paper

NM_007294.4

p.L159H

c.476T>A

1 paper

NM_007294.4

p.N158N

c.474C>T

1 paper

NM_007294.4

p.N158fs

c.472_473fs

2 papers

NM_007294.4

p.S157_N158delFs

c.469_473del5

4 papers

NM_007294.4

p.S157_N158delFs

c.470_474del5

1 paper

NM_007294.4

p.N158S

c.473A>G

1 paper

NM_007294.4

p.G160*

c.478G>T