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

2 papers

NM_007294.4

p.K339R

c.1016A>G

Surrounding Variants

4 papers

NM_007294.4

p.K339T

c.1016A>C

3 papers

NM_007294.4

p.K339insFs

c.1016_1017insC

31 papers

NM_007294.4

p.K339fs

c.1015_1016fs

97 papers

NM_007294.4

p.K339insFs

c.1016dupA

1 paper

NM_007294.4

p.K339N

c.1017G>C

2 papers

NM_007294.4

p.K339K

c.1017G>A

70 papers

NM_007294.4

p.E337delFs

c.1010delT

3 papers

NM_007294.4

p.K339delFs

c.1015_1016delTT

25 papers

NM_007294.4

p.K339fs

c.1015_1016fs

1 paper

NM_007294.4

p.E337_K339delFs

c.1010_1016del7

1 paper

NM_007294.4

p.K339*

c.1015A>T

7 papers

NM_007294.4

p.K339E

c.1015A>G