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.M1400_Q1401del2

c.4198_4202del6

Surrounding Variants

3 papers

NM_007294.4

p.H1402fs

c.4204_4205fs

34 papers

NM_007294.4

p.H1402Y

c.4204C>T

2 papers

NM_007294.4

p.Q1401delFs

c.4203delT

1 paper

NM_007294.4

p.Q1401H

c.4203A>T

9 papers

NM_007294.4

p.H1402R

c.4205A>G

2 papers

NM_007294.4

p.H1402P

c.4205A>C

1 paper

NM_007294.4

p.Q1401H

c.4203A>C

2 papers

NM_007294.4

p.Q1401fs

c.4201_4202fs

2 papers

NM_007294.4

p.H1402fs

c.4204_4205fs

1 paper

NM_007294.4

p.H1402H

c.4206T>C

8 papers

NM_007294.4

p.H1402delFs

c.4205delT

3 papers

NM_007294.4

p.Q1401P

c.4202A>C