Varaico: Literature-Extracted Genetic Variants

JAK1

1,174 papers

RefSeq Summary

This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to...

Pfam Domains

FERM_F1aa 36–129UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 147–277UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 284–421UCSCJak1 pleckstrin homology-like domain

SH2_1aa 438–546UCSCSH2 domain

PK_Tyr_Ser-Thraa 583–845UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 875–1149UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Janus kinase 1

HGNC Previous Symbol

JAK1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

28 papers

NM_002227.4

p.Y652H

c.1954T>C

Surrounding Variants

4 papers

NM_002227.4

p.Y652D

c.1954T>G

2 papers

NM_002227.4

p.Y652N

c.1954T>A

1 paper

NM_002227.4

p.V651L

c.1951G>T

1 paper

NM_002227.4

p.V651L

c.1951G>C

14 papers

NM_002227.4

p.V651M

c.1951G>A

17 papers

NM_002227.4

p.L653F

c.1957C>T

1 paper

NM_002227.4

p.L653P

c.1958T>C

1 paper

NM_002227.4

p.I650fs

c.1948_1949fs

1 paper

NM_002227.4

p.I650V

c.1948A>G

3 papers

NM_002227.4

p.Y654F

c.1961A>T

1 paper

NM_002227.4

p.Y654C

c.1961A>G

1 paper

NM_002227.4

p.H649ins2

c.1946_1947ins6