Varaico: Literature-Extracted Genetic Variants

SHCBP1L

49 papers

RefSeq Summary

This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during mei...

Pfam Domains

SHCBP_Naa 121–359UCSCSHCBP N-terminal domain

Beta_helixaa 486–653UCSCRight handed beta helix region

Gene Aliases

HGNC Name

SHC binding and spindle associated 1 like

HGNC Previous Names

chromosome 1 open reading frame 14; SHC SH2-domain binding protein 1-like

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030933.4

p.E79A

c.236A>C

Surrounding Variants

1 paper

NM_030933.4

p.A78delFs

c.232delC

1 paper

NM_030933.4

p.D80G

c.239A>G

1 paper

NM_030933.4

p.A78fs

c.232_233fs

1 paper

NM_030933.4

p.Q77fs

c.229_230fs

1 paper

NM_030933.4

p.Q77E

c.229C>G

1 paper

NM_030933.4

p.A76insFs

c.227dupC

1 paper

NM_030933.4

p.A75S

c.223G>T

1 paper

NM_030933.4

p.A85fs

c.253_254fs

1 paper

NM_030933.4

p.A85insFs

c.255dupG

1 paper

NM_030933.4

p.R72S

c.214C>A

3 papers

NM_030933.4

p.L68M

c.202C>A

1 paper

NM_030933.4

p.L93M

c.277C>A