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

9 papers

NM_007294.4

p.E85G

c.254A>G

Surrounding Variants

7 papers

NM_007294.4

p.E85V

c.254A>T

6 papers

NM_007294.4

p.E85A

c.254A>C

5 papers

NM_007294.4

p.V83_E84del2

c.247_251del6

11 papers

NM_007294.4

p.E85D

c.255G>T

1 paper

NM_007294.4

p.E85*

c.253G>T

1 paper

NM_007294.4

p.E85_L86ins5

c.253_257ins15

10 papers

NM_007294.4

p.E85D

c.255G>C

5 papers

NM_007294.4

p.E85Q

c.253G>C

12 papers

NM_007294.4

p.E85K

c.253G>A

2 papers

NM_007294.4

p.E85E

c.255G>A

1 paper

NM_007294.4

p.E84delFs

c.252delT

1 paper

NM_007294.4

p.E85fs

c.253_254fs