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

35 papers

NM_002227.4

p.K860fs

c.2578_2579fs

Surrounding Variants

4 papers

NM_002227.4

p.K860N

c.2580A>T

4 papers

NM_002227.4

p.K860N

c.2580A>C

1 paper

NM_002227.4

p.P861S

c.2581C>T

4 papers

NM_002227.4

p.P861insFs

c.2581_2582insA

2 papers

NM_002227.4

p.P861T

c.2581C>A

15 papers

NM_002227.4

p.K860delFs

c.2580delT

2 papers

NM_002227.4

p.K860T

c.2579A>C

6 papers

NM_002227.4

p.P861fs

c.2581_2582fs

1 paper

NM_002227.4

p.K860*

c.2578A>T

21 papers

NM_002227.4

p.K860fs

c.2578_2579fs

2 papers

NM_002227.4

p.P861fs

c.2581_2582fs

1 paper

NM_002227.4

p.K859fs

c.2575_2576fs