Varaico: Literature-Extracted Genetic Variants

NAIP

138 papers

RefSeq Summary

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. ...

Pfam Domains

BIRaa 63–128UCSCInhibitor of Apoptosis domain

BIRaa 162–228UCSCInhibitor of Apoptosis domain

BIRaa 281–346UCSCInhibitor of Apoptosis domain

NACHTaa 464–618UCSCNACHT domain

WHD_Nlrc4aa 685–741UCSCNlrc4-like, winged helix domain

NLRC4_HDaa 766–872UCSCNLRC4 helical domain

Gene Aliases

HGNC Name

NLR family apoptosis inhibitory protein

HGNC Previous Symbol

BIRC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004536.3

p.G85R

c.253G>A

Surrounding Variants

1 paper

NM_004536.3

p.G85R

c.253G>C

1 paper

NM_004536.3

p.S74R

c.222C>G

1 paper

NM_004536.3

p.S74R

c.222C>A

1 paper

NM_004536.3

p.S74R

c.220A>C

1 paper

NM_004536.3

p.P72L

c.215C>T

1 paper

NM_004536.3

p.T66_P72delFs

c.198_214del17

1 paper

NM_004536.3

p.P72A

c.214C>G

1 paper

NM_004536.3

p.G106S

c.316G>A

2 papers

NM_004536.3

p.R63S

c.189G>T

2 papers

NM_004536.3

p.R63S

c.189G>C

2 papers

NM_004536.3

p.S59R

c.177T>A

1 paper

NM_004536.3

p.S59I

c.176G>T