Varaico: Literature-Extracted Genetic Variants

CFLAR

145 papers

RefSeq Summary

The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two pep...

Pfam Domains

DEDaa 2–77UCSCDeath effector domain

DEDaa 93–174UCSCDeath effector domain

Peptidase_C14aa 252–476UCSCCaspase domain

Gene Aliases

HGNC Name

CASP8 and FADD like apoptosis regulator

HGNC Previous Symbol

CASP8AP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003879.7

p.K49R

c.146A>G

Surrounding Variants

1 paper

NM_003879.7

p.K49*

c.145A>T

2 papers

NM_003879.7

p.L50_V52del3

c.148_155del9

1 paper

NM_003879.7

p.S51T

c.151T>A

1 paper

NM_003879.7

p.D54A

c.161A>C

1 paper

NM_003879.7

p.D42del1

c.124_125delGAT

1 paper

NM_003879.7

p.V33V

c.99T>A

1 paper

NM_003879.7

p.L67P

c.200T>C

1 paper

NM_003879.7

p.L68I

c.202C>A

1 paper

NM_003879.7

p.K69R

c.206A>G

1 paper

NM_003879.7

p.R70S

c.208C>A

1 paper

NM_003879.7

p.F23Y

c.68T>A

1 paper

NM_003879.7

p.E19A

c.56A>C