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.E227A

c.680A>C

Surrounding Variants

1 paper

NM_006620.4

p.Q223*

c.667C>T

1 paper

NM_006620.4

p.P234Q

c.701C>A

1 paper

NM_006620.4

p.K237N

c.711G>C

1 paper

NM_006620.4

p.L241R

c.722T>G

1 paper

NM_006620.4

p.T211P

c.631A>C

1 paper

NM_006620.4

p.K253N

c.759G>T

1 paper

NM_006620.4

p.K253N

c.759G>C

1 paper

NM_006620.4

p.D201H

c.601G>C

1 paper

NM_006620.4

p.D201N

c.601G>A

1 paper

NM_006620.4

p.P197P

c.591G>A

1 paper

NM_006620.4

p.K258E

c.772A>G

1 paper

NM_006620.4

p.G196delFs

c.587delC