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

3 papers

NM_007294.4

p.M1400K

c.4199T>A

Surrounding Variants

1 paper

NM_007294.4

p.M1400R

c.4199T>G

7 papers

NM_007294.4

p.M1400T

c.4199T>C

6 papers

NM_007294.4

p.M1400I

c.4200G>T

6 papers

NM_007294.4

p.M1400I

c.4200G>C

6 papers

NM_007294.4

p.M1400I

c.4200G>A

2 papers

NM_007294.4

p.M1400fs

c.4198_4199fs

28 papers

NM_007294.4

p.M1400V

c.4198A>G

3 papers

NM_007294.4

p.T1399delFs

c.4197delG

15 papers

NM_007294.4

p.Q1401*

c.4201C>T

1 paper

NM_007294.4

p.T1399T

c.4197C>T

1 paper

NM_007294.4

p.Q1401E

c.4201C>G

1 paper

NM_007294.4

p.T1399fs

c.4195_4196fs