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

358 papers

NM_007294.4

p.E1038G

c.3113A>G

NM_007297.4

p.E991G

c.2972A>G

Surrounding Variants

1 paper

NM_007294.4

p.E1038V

c.3113A>T

12 papers

NM_007294.4

p.E1038A

c.3113A>C

1 paper

NM_007294.4

p.E1038delFs

c.3112delC

4 papers

NM_007294.4

p.F1036_E1038del0

c.3107_3112del6

8 papers

NM_007294.4

p.E1038*

c.3112G>T

1 paper

NM_007294.4

p.K1037insFs

c.3111dupA

11 papers

NM_007294.4

p.K1037insFs

c.3109_3110insAA

1 paper

NM_007294.4

p.K1037delFs

c.3109delT

1 paper

NM_007294.4

p.E1038D

c.3114A>T

4 papers

NM_007294.4

p.E1038E

c.3114A>G

1 paper

NM_007294.4

p.E1038D

c.3114A>C

1 paper

NM_007294.4

p.E1038fs

c.3112_3113fs