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

4 papers

NM_007294.4

p.T1051S

c.3152C>G

Surrounding Variants

6 papers

NM_007294.4

p.T1051I

c.3152C>T

1 paper

NM_007294.4

p.T1051fs

c.3151_3152fs

1 paper

NM_007294.4

p.T1051T

c.3153T>C

3 papers

NM_007294.4

p.T1051S

c.3151A>T

3 papers

NM_007294.4

p.T1051A

c.3151A>G

1 paper

NM_007294.4

p.S1049_S1050del2

c.3145_3149del6

1 paper

NM_007294.4

p.S1050fs

c.3148_3149fs

4 papers

NM_007294.4

p.S1050R

c.3150T>G

4 papers

NM_007294.4

p.S1050R

c.3150T>A

3 papers

NM_007294.4

p.N1052fs

c.3154_3155fs

3 papers

NM_007294.4

p.N1052D

c.3154A>G

1 paper

NM_007294.4

p.N1052H

c.3154A>C