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.R257Splc

c.771-9T>C

Surrounding Variants

1 paper

NM_030933.4

p.D268N

c.802G>A

1 paper

NM_030933.4

p.R283_I284del2

c.847_851del6

1 paper

NM_030933.4

p.R283_I284delFs

c.849_852del4

1 paper

NM_030933.4

p.A300T

c.898G>A

1 paper

NM_030933.4

p.K305R

c.914A>G

1 paper

NM_030933.4

p.L307*

c.920T>A

1 paper

NM_030933.4

p.K309K

c.927A>G

1 paper

NM_030933.4

p.E316K

c.946G>A

1 paper

NM_030933.4

p.S329F

c.986C>T

2 papers

NM_030933.4

p.I249T

c.746T>C

1 paper

NM_030933.4

p.L369R

c.1106T>G

1 paper

NM_030933.4

p.A387E

c.1160C>A