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.E1535_E1536insTA

c.4603_4607ins6

Surrounding Variants

39 papers

NM_007294.4

p.E1535*

c.4603G>T

2 papers

NM_007294.4

p.E1535_E1536ins4

c.4603_4607ins12

4 papers

NM_007294.4

p.E1535Q

c.4603G>C

5 papers

NM_007294.4

p.E1535K

c.4603G>A

3 papers

NM_007294.4

p.E1535fs

c.4603_4604fs

3 papers

NM_007294.4

p.V1534insFs

c.4601dupT

1 paper

NM_007294.4

p.V1532_V1534ins1

c.4596_4601dup6

1 paper

NM_007294.4

p.V1534fs

c.4600_4601fs

3 papers

NM_007294.4

p.V1534V

c.4602G>A

2 papers

NM_007294.4

p.E1535G

c.4604A>G

1 paper

NM_007294.4

p.E1535delFs

c.4603delC

1 paper

NM_007294.4

p.V1534A

c.4601T>C