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

1–12 of 29 variants

2 papers

NM_012336.4

p.Y229C

c.686A>G

1 paper

NM_012336.4

p.C6*

c.18C>A

1 paper

NM_012336.4

p.T7K

c.20C>A

1 paper

NM_012336.4

p.A46D

c.137C>A

1 paper

NM_012336.4

p.C59S

c.175T>A

1 paper

NM_012336.4

p.C59S

c.176G>C

1 paper

NM_012336.4

p.E63D

c.189G>C

1 paper

NM_012336.4

p.E63D

c.189G>T

1 paper

NM_012336.4

p.Q67insFs

c.199_200insA

1 paper

NM_012336.4

p.F77L

c.231C>A

1 paper

NM_012336.4

p.N81S

c.242A>G

1 paper

NM_012336.4

p.K84_K85Splc

c.253-5T>C