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

4 papers

NM_007294.4

p.Q1356_E1357delFs

c.4067_4071del5

Surrounding Variants

6 papers

NM_007294.4

p.E1358*

c.4072G>T

2 papers

NM_007294.4

p.E1358Q

c.4072G>C

3 papers

NM_007294.4

p.E1358K

c.4072G>A

5 papers

NM_007294.4

p.E1357delFs

c.4071delT

3 papers

NM_007294.4

p.E1358fs

c.4072_4073fs

2 papers

NM_007294.4

p.E1357delFs

c.4070_4071delTT

1 paper

NM_007294.4

p.N1354_E1357del0

c.4060_4071del12

2 papers

NM_007294.4

p.E1358V

c.4073A>T

1 paper

NM_007294.4

p.E1357D

c.4071A>T

3 papers

NM_007294.4

p.E1358G

c.4073A>G

3 papers

NM_007294.4

p.E1357E

c.4071A>G

3 papers

NM_007294.4

p.E1357D

c.4071A>C