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

5 papers

NM_007294.4

p.L1780R

c.5339T>G

Surrounding Variants

83 papers

NM_007294.4

p.L1780P

c.5339T>C

NM_007300.4

p.L1801P

c.5402T>C

3 papers

NM_007294.4

p.L1780Q

c.5339T>A

1 paper

NM_007294.4

p.L1780delFs

c.5338delG

2 papers

NM_007294.4

p.L1780fs

c.5338_5339fs

1 paper

NM_007294.4

p.L1780V

c.5338C>G

1 paper

NM_007294.4

p.L1780_E1781insT

c.5338_5342ins3

1 paper

NM_007294.4

p.L1780M

c.5338C>A

7 papers

NM_007294.4

p.E1781*

c.5341G>T

1 paper

NM_007294.4

p.E1781Q

c.5341G>C

5 papers

NM_007294.4

p.E1781K

c.5341G>A

2 papers

NM_007294.4

p.Q1779H

c.5337A>T

1 paper

NM_007294.4

p.Q1779Q

c.5337A>G