Varaico: Literature-Extracted Genetic Variants

NARF

30 papers

RefSeq Summary

Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role...

Pfam Domains

Fe_hyd_lg_Caa 92–382UCSCIron only hydrogenase large subunit, C-terminal domain

Fe_hyd_SSUaa 393–445UCSCIron hydrogenase small subunit

Gene Aliases

HGNC Name

nuclear prelamin A recognition factor

HGNC Alias Symbols

FLJ10067; DKFZp434G0420; IOP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012336.4

p.G257Splc

c.769+1183G>C

Surrounding Variants

1 paper

NM_012336.4

p.G257S

c.769G>A

1 paper

NM_012336.4

p.A243T

c.727G>A

1 paper

NM_012336.4

p.S239G

c.715A>G

1 paper

NM_012336.4

p.K231delFs

c.691_692delAA

2 papers

NM_012336.4

p.Y229C

c.686A>G

1 paper

NM_012336.4

p.F221S

c.662T>C

1 paper

NM_012336.4

p.L299M

c.895C>A

1 paper

NM_012336.4

p.R324Splc

c.971+45G>A

1 paper

NM_012336.4

p.A344V

c.1031C>T

1 paper

NM_012336.4

p.Q199_V200insA

c.595_599ins3

1 paper

NM_012336.4

p.A189S

c.565G>T

1 paper

NM_012336.4

p.A179T

c.535G>A