Varaico: Literature-Extracted Genetic Variants

PAXIP1

125 papers

RefSeq Summary

This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome...

Pfam Domains

PTCB-BRCTaa 102–165UCSCtwin BRCT domain

BRCTaa 601–681UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 701–776UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 866–934UCSCBRCA1 C Terminus (BRCT) domain

BRCT_2aa 971–1067UCSCBRCT domain

Gene Aliases

HGNC Name

PAX interacting protein 1

HGNC Previous Symbol

PAXIP1L

Papers

RefSeq ID

Protein change

DNA change

1–12 of 131 variants

5 papers

NM_007349.4

p.Q548del1

c.1642_1643delCTG

3 papers

NM_007349.4

p.W165R

c.493T>C

3 papers

NM_007349.4

p.W165R

c.493T>A

3 papers

NM_007349.4

p.P268L

c.803C>T

2 papers

NM_007349.4

p.D25A

c.74A>C

2 papers

NM_007349.4

p.W75R

c.223T>C

2 papers

NM_007349.4

p.W75R

c.223T>A

2 papers

NM_007349.4

p.F100delFs

c.300delA

2 papers

NM_007349.4

p.Y124F

c.371A>T

2 papers

NM_007349.4

p.K148R

c.443A>G

2 papers

NM_007349.4

p.V335I

c.1003G>A

2 papers

NM_007349.4

p.H414ins2

c.1241_1242ins6