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

1 paper

NM_007294.4

p.S1457S

c.4371A>G

Surrounding Variants

2 papers

NM_007294.4

p.Q1458fs

c.4372_4373fs

36 papers

NM_007294.4

p.Q1458*

c.4372C>T

9 papers

NM_007294.4

p.S1457*

c.4370C>G

10 papers

NM_007294.4

p.S1457*

c.4370C>A

1 paper

NM_007294.4

p.S1457_Q1458ins6

c.4369_4373ins18

12 papers

NM_007294.4

p.S1457A

c.4369T>G

1 paper

NM_007294.4

p.Q1458L

c.4373A>T

1 paper

NM_007294.4

p.Q1458R

c.4373A>G

1 paper

NM_007294.4

p.Q1458delFs

c.4372delG

1 paper

NM_007294.4

p.Q1458H

c.4374G>C

1 paper

NM_007294.4

p.Q1458Q

c.4374G>A

2 papers

NM_007294.4

p.Q1458delFs

c.4372_4373delTG