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

6 papers

NM_007294.4

p.E1836G

c.5507A>G

Surrounding Variants

2 papers

NM_007294.4

p.E1836A

c.5507A>C

1 paper

NM_007294.4

p.E1836delFs

c.5506delC

1 paper

NM_007294.4

p.R1835_E1836delFs

c.5503_5506del4

8 papers

NM_007294.4

p.V1833_E1836delFs

c.5497_5506del10

3 papers

NM_007294.4

p.V1832_E1836delFs

c.5496_5506del11

14 papers

NM_007294.4

p.E1836*

c.5506G>T

2 papers

NM_007294.4

p.E1836D

c.5508G>T

3 papers

NM_007294.4

p.E1836fs

c.5506_5507fs

3 papers

NM_007294.4

p.E1836Q

c.5506G>C

2 papers

NM_007294.4

p.E1836D

c.5508G>C

29 papers

NM_007294.4

p.E1836K

c.5506G>A

2 papers

NM_007294.4

p.E1836E

c.5508G>A