Varaico: Literature-Extracted Genetic Variants

HBS1L

174 papers

RefSeq Summary

This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene...

Pfam Domains

HBS1_Naa 46–129UCSCHBS1 N-terminus

GTP_EFTUaa 94–316UCSCElongation factor Tu GTP binding domain

GTP_EFTUaa 258–480UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 338–405UCSCElongation factor Tu domain 2

GTP-eEF1A_Caa 416–516UCSCGTP-eEF1A C-terminal domain-like

GTP_EFTU_D2aa 502–569UCSCElongation factor Tu domain 2

Gene Aliases

HGNC Name

HBS1 like translational GTPase

HGNC Alias Symbols

ERFS; HBS1; HSPC276; KIAA1038; DKFZp434g247; EF-1a; eRF3c

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006620.4

p.G75E

c.224G>A

Surrounding Variants

1 paper

NM_006620.4

p.F76S

c.227T>C

1 paper

NM_006620.4

p.S74N

c.221G>A

1 paper

NM_006620.4

p.S67F

c.200C>T

1 paper

NM_006620.4

p.N66ins5

c.196_197ins15

1 paper

NM_006620.4

p.S65C

c.194C>G

1 paper

NM_006620.4

p.S65T

c.193T>A

1 paper

NM_006620.4

p.D60N

c.178G>A

1 paper

NM_006620.4

p.Y56C

c.167A>G

1 paper

NM_006620.4

p.E55D

c.165A>T

1 paper

NM_006620.4

p.E55D

c.165A>C

1 paper

NM_006620.4

p.E55A

c.164A>C

2 papers

NM_006620.4

p.E55K

c.163G>A