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

3 papers

NM_007294.4

p.G1748fs

c.5242_5243fs

Surrounding Variants

11 papers

NM_007294.4

p.G1748C

c.5242G>T

7 papers

NM_007294.4

p.G1748R

c.5242G>C

11 papers

NM_007294.4

p.G1748S

c.5242G>A

5 papers

NM_007294.4

p.Q1747delFs

c.5241delT

1 paper

NM_007294.4

p.H1746_Q1747delFs

c.5237_5241del5

9 papers

NM_007294.4

p.G1748V

c.5243G>T

5 papers

NM_007294.4

p.G1748A

c.5243G>C

21 papers

NM_007294.4

p.G1748D

c.5243G>A

9 papers

NM_007294.4

p.Q1747H

c.5241A>T

10 papers

NM_007294.4

p.Q1747H

c.5241A>C

1 paper

NM_007294.4

p.Q1747_G1748insFs

c.5241_5242insTA

3 papers

NM_007294.4

p.H1746_Q1747del1

c.5238_5240delTGG