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.L639F

c.1917G>C

Surrounding Variants

1 paper

NM_007294.4

p.L639F

c.1917G>T

1 paper

NM_007294.4

p.L639fs

c.1915_1916fs

1 paper

NM_007294.4

p.L639L

c.1917G>A

14 papers

NM_007294.4

p.L639*

c.1916T>A

9 papers

NM_007294.4

p.Q640*

c.1918C>T

3 papers

NM_007294.4

p.Q640K

c.1918C>A

2 papers

NM_007294.4

p.L639L

c.1915T>C

1 paper

NM_007294.4

p.E638delFs

c.1913delT

1 paper

NM_007294.4

p.Q640P

c.1919A>C

2 papers

NM_007294.4

p.Q640H

c.1920A>T

2 papers

NM_007294.4

p.Q640H

c.1920A>C

4 papers

NM_007294.4

p.I641fs

c.1921_1922fs