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

59 papers

NM_007294.4

p.Y1853C

c.5558A>G

Surrounding Variants

10 papers

NM_007294.4

p.Y1853F

c.5558A>T

3 papers

NM_007294.4

p.Y1853S

c.5558A>C

5 papers

NM_007294.4

p.Y1853insFs

c.5557dupT

1 paper

NM_007294.4

p.Y1853delFs

c.5557delA

1 paper

NM_007294.4

p.T1852insFs

c.5556dupC

1 paper

NM_007294.4

p.Y1853_L1854insA

c.5557_5561ins3

3 papers

NM_007294.4

p.Y1853D

c.5557T>G

5 papers

NM_007294.4

p.Y1853H

c.5557T>C

3 papers

NM_007294.4

p.Y1853N

c.5557T>A

1 paper

NM_007294.4

p.T1852del1

c.5554_5556delGGT

4 papers

NM_007294.4

p.Q1846_T1852delFs

c.5537_5556del20

77 papers

NM_007294.4

p.Y1853*

c.5559C>G