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.L750insFs

c.2250dupC

Surrounding Variants

6 papers

NM_007294.4

p.M751fs

c.2251_2252fs

3 papers

NM_007294.4

p.M751L

c.2251A>T

2 papers

NM_007294.4

p.M751V

c.2251A>G

3 papers

NM_007294.4

p.M751L

c.2251A>C

1 paper

NM_007294.4

p.D746_L750del5

c.2236_2249del15

1 paper

NM_007294.4

p.E745_L750del6

c.2233_2249del18

2 papers

NM_007294.4

p.M751insFs

c.2251dupA

7 papers

NM_007294.4

p.M751T

c.2252T>C

3 papers

NM_007294.4

p.L750P

c.2249T>C

2 papers

NM_007294.4

p.M751I

c.2253G>T

1 paper

NM_007294.4

p.M751fs

c.2251_2252fs

2 papers

NM_007294.4

p.M751I

c.2253G>C