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.Q1612R

c.4835A>G

Surrounding Variants

1 paper

NM_007294.4

p.Q1612delFs

c.4834delG

3 papers

NM_007294.4

p.Q1612H

c.4836G>T

3 papers

NM_007294.4

p.Q1612H

c.4836G>C

1 paper

NM_007294.4

p.Q1612Q

c.4836G>A

2 papers

NM_007294.4

p.Q1612delFs

c.4834_4835delTG

1 paper

NM_007294.4

p.Q1612fs

c.4834_4835fs

17 papers

NM_007300.4

p.Q1633*

c.4897C>T

NM_007294.4

p.Q1612*

c.4834C>T

2 papers

NM_007294.4

p.A1608_A1611del4

c.4822_4832del12

4 papers

NM_007294.4

p.S1613fs

c.4837_4838fs

2 papers

NM_007294.4

p.A1611A

c.4833C>T

29 papers

NM_007294.4

p.S1613C

c.4837A>T

326 papers

NM_007294.4

p.S1613G

c.4837A>G

NM_007297.4

p.S1566G

c.4696A>G

NM_007300.4

p.S1634G

c.4900A>G