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.R607S

c.1821G>C

Surrounding Variants

1 paper

NM_001042492.3

p.R607S

c.1821G>T

1 paper

NM_001042492.3

p.N608_F610del0

c.1823_1828del6

1 paper

NM_001042492.3

p.R607G

c.1819A>G

1 paper

NM_001042492.3

p.R607W

c.1819A>T

1 paper

NM_001042492.3

p.C606*

c.1818C>A

1 paper

NM_001042492.3

p.K609Q

c.1825A>C

2 papers

NM_001042492.3

p.C606Y

c.1817G>A

1 paper

NM_001042492.3

p.C606delins

c.1817delinsAGTTACC

1 paper

NM_001042492.3

p.C606insFs

c.1817_1818insT

2 papers

NM_001042492.3

p.C606F

c.1817G>T

1 paper

NM_001042492.3

p.K609T

c.1826A>C

1 paper

NM_001042492.3

p.K609R

c.1826A>G