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

11 papers

NM_007294.4

p.I42L

c.124A>T

Surrounding Variants

31 papers

NM_007294.4

p.I42V

c.124A>G

13 papers

NM_007294.4

p.I42L

c.124A>C

1 paper

NM_007294.4

p.I42insFs

c.124_125insT

4 papers

NM_007294.4

p.I42fs

c.124_125fs

4 papers

NM_007294.4

p.H41_I42delins

c.123_124delinsAT

1 paper

NM_007294.4

p.S36_H41del6

c.106_122del18

6 papers

NM_007294.4

p.I42R

c.125T>G

9 papers

NM_007294.4

p.I42T

c.125T>C

8 papers

NM_007294.4

p.I42K

c.125T>A

17 papers

NM_007294.4

p.I42delFs

c.124delT

3 papers

NM_007294.4

p.H41H

c.123C>T

8 papers

NM_007294.4

p.H41Q

c.123C>G