Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042492.3

p.I429T

c.1286T>C

Surrounding Variants

1 paper

NM_001042492.3

p.D430_A431del2

c.1288_1292del6

1 paper

NM_001042492.3

p.I429F

c.1285A>T

1 paper

NM_001042492.3

p.D430_V437del8

c.1288_1310del24

1 paper

NM_001042492.3

p.I429_D430del2

c.1285_1289del6

1 paper

NM_001042492.3

p.D430insFs

c.1290dupT

1 paper

NM_001042492.3

p.K428T

c.1283A>C

1 paper

NM_001042492.3

p.D430A

c.1289A>C

1 paper

NM_001042492.3

p.D430V

c.1289A>T

1 paper

NM_001042492.3

p.K428insFs

c.1283_1284insTA

1 paper

NM_001042492.3

p.K428E

c.1282A>G

2 papers

NM_001042492.3

p.K428fs

c.1282_1283fs

1 paper

NM_001042492.3

p.D430E

c.1290T>A