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.I31_K32del2

c.91_95del6

Surrounding Variants

10 papers

NM_007294.4

p.E33*

c.97G>T

11 papers

NM_007294.4

p.E33Q

c.97G>C

10 papers

NM_007294.4

p.E33K

c.97G>A

1 paper

NM_007294.4

p.K32delFs

c.95_96delCT

9 papers

NM_007294.4

p.K32N

c.96G>T

1 paper

NM_007294.4

p.K32_E33insFs

c.96_97insAG

2 papers

NM_007294.4

p.K32_E33insFs

c.96_97insA

9 papers

NM_007294.4

p.K32N

c.96G>C

2 papers

NM_007294.4

p.K32K

c.96G>A

6 papers

NM_007294.4

p.E33V

c.98A>T

5 papers

NM_007294.4

p.E33G

c.98A>G

13 papers

NM_007294.4

p.E33A

c.98A>C