Varaico: Literature-Extracted Genetic Variants

INSR

1,355 papers

RefSeq Summary

This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric r...

Pfam Domains

Recep_L_domainaa 52–164UCSCReceptor L domain

Furin-likeaa 179–340UCSCFurin-like cysteine rich region

Recep_L_domainaa 359–473UCSCReceptor L domain

fn3aa 856–943UCSCFibronectin type III domain

Insulin_TMDaa 940–987UCSCInsulin receptor trans-membrane segment

Gene Aliases

HGNC Name

insulin receptor

HGNC Alias Symbol

CD220

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000208.4

p.N1164T

c.3491A>C

Surrounding Variants

4 papers

NM_000208.4

p.C1165Y

c.3494G>A

1 paper

NM_000208.4

p.R1163G

c.3487A>G

1 paper

NM_000208.4

p.M1166R

c.3497T>G

5 papers

NM_000208.4

p.A1162V

c.3485C>T

2 papers

NM_000208.4

p.A1162E

c.3485C>A

1 paper

NM_000208.4

p.A1162T

c.3484G>A

3 papers

NM_000208.4

p.A1161T

c.3481G>A

2 papers

NM_000208.4

p.A1162_A1168del0

c.3486_3503del18

2 papers

NM_000208.4

p.D1159N

c.3475G>A

1 paper

NM_000208.4

p.R1158Q

c.3473G>A

9 papers

NM_000208.4

p.R1158W

c.3472C>T

4 papers

NM_000208.4

p.H1157Q

c.3471T>G