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.E848delFs

c.2544delT

Surrounding Variants

3 papers

NM_007294.4

p.E849*

c.2545G>T

1 paper

NM_007294.4

p.E849_S850ins12

c.2545_2549ins36

1 paper

NM_007294.4

p.E849Q

c.2545G>C

1 paper

NM_007294.4

p.E849K

c.2545G>A

3 papers

NM_007294.4

p.E849fs

c.2545_2546fs

3 papers

NM_007294.4

p.E849G

c.2546A>G

2 papers

NM_007294.4

p.E848E

c.2544A>G

1 paper

NM_007294.4

p.E849A

c.2546A>C

3 papers

NM_007294.4

p.E849D

c.2547A>T

1 paper

NM_007294.4

p.E848G

c.2543A>G

2 papers

NM_007294.4

p.E849fs

c.2545_2546fs

1 paper

NM_007294.4

p.N838_M847del10

c.2512_2540del30