Varaico: Literature-Extracted Genetic Variants

HIKESHI

27 papers

RefSeq Summary

This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporin...

Pfam Domains

Hikeshi-like_Naa 5–132UCSCHikeshi-like, N-terminal domain

Hikeshi-like_Caa 136–197UCSCHikeshi-like, C-terminal domain

Gene Aliases

HGNC Name

heat shock protein nuclear import factor hikeshi

HGNC Previous Symbol

C11orf73

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

14 papers

NM_016401.4

p.V54L

c.160G>C

6 papers

NM_016401.4

p.C4S

c.10T>A

6 papers

NM_016401.4

p.C4S

c.11G>C

3 papers

NM_016401.4

p.Y55C

c.164A>G

3 papers

NM_016401.4

p.W180Splc

c.539+3A>G

2 papers

NM_016401.4

p.F2V

c.4T>G

2 papers

NM_016401.4

p.L10_V11Splc

c.31-1G>T

1 paper

NM_016401.4

p.M1V

c.1A>G

1 paper

NM_016401.4

p.V18A

c.53T>C

1 paper

NM_016401.4

p.V24A

c.71T>C

1 paper

NM_016401.4

p.S32N

c.95G>A

1 paper

NM_016401.4

p.I33S

c.98T>G