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.R1204K

c.3611G>A

Surrounding Variants

6 papers

NM_007294.4

p.R1204I

c.3611G>T

6 papers

NM_007294.4

p.R1204T

c.3611G>C

1 paper

NM_007294.4

p.R1204_G1205insGG

c.3610_3614ins6

6 papers

NM_007294.4

p.Q1200_R1204delFs

c.3600_3610del11

1 paper

NM_007294.4

p.Q1200_R1204del0

c.3600_3611del12

9 papers

NM_007294.4

p.G1205R

c.3613G>C

10 papers

NM_007294.4

p.G1205R

c.3613G>A

8 papers

NM_007294.4

p.R1204delFs

c.3612delT

1 paper

NM_007294.4

p.G1205V

c.3614G>T

33 papers

NM_007294.4

p.R1203Q

c.3608G>A

2 papers

NM_007294.4

p.G1205E

c.3614G>A

1 paper

NM_007294.4

p.R1204_G1205delFs

c.3612_3613delCT