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

81 papers

NM_007294.4

p.S1140G

c.3418A>G

Surrounding Variants

2 papers

NM_007294.4

p.S1140fs

c.3418_3419fs

5 papers

NM_007294.4

p.S1140R

c.3418A>C

5 papers

NM_007294.4

p.S1140insFs

c.3418_3419ins8

1 paper

NM_007294.4

p.S1140insFs

c.3418_3419ins4

4 papers

NM_007294.4

p.S1139delFs

c.3417delA

1 paper

NM_007294.4

p.Q1135_S1139del5

c.3403_3416del15

1 paper

NM_007294.4

p.S1139fs

c.3415_3416fs

2 papers

NM_007294.4

p.S1139R

c.3417T>G

1 paper

NM_007294.4

p.S1139S

c.3417T>C

2 papers

NM_007294.4

p.S1139R

c.3417T>A

6 papers

NM_007294.4

p.S1140I

c.3419G>T

1 paper

NM_007294.4

p.S1140Fs

c.3419delinsTGACTACTGFs