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

42 papers

NM_007294.4

p.E143K

c.427G>A

Surrounding Variants

87 papers

NM_007294.4

p.E143*

c.427G>T

NM_007297.4

p.E96*

c.286G>T

1 paper

NM_007294.4

p.E143insFs

c.427_428insA

11 papers

NM_007294.4

p.E143Q

c.427G>C

4 papers

NM_007294.4

p.P142P

c.426C>T

1 paper

NM_007294.4

p.P142P

c.426C>G

1 paper

NM_007294.4

p.P142fs

c.424_425fs

1 paper

NM_007294.4

p.E143V

c.428A>T

4 papers

NM_007294.4

p.E143G

c.428A>G

2 papers

NM_007294.4

p.E143A

c.428A>C

1 paper

NM_007294.4

p.E143delFs

c.427delC

2 papers

NM_007294.4

p.P142L

c.425C>T

2 papers

NM_007294.4

p.P142R

c.425C>G