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

2 papers

NM_001042492.3

p.L439delFs

c.1317delT

Surrounding Variants

1 paper

NM_001042492.3

p.L439insFs

c.1316_1317dupTT

2 papers

NM_001042492.3

p.L439F

c.1315C>T

2 papers

NM_001042492.3

p.L439P

c.1316T>C

2 papers

NM_001042492.3

p.L439R

c.1316T>G

2 papers

NM_001042492.3

p.L439L

c.1317T>G

1 paper

NM_001042492.3

p.R440delFs

c.1318delC

116 papers

NM_001042492.3

p.R440*

c.1318C>T

1 paper

NM_001042492.3

p.R440fs

c.1318_1319fs

4 papers

NM_001042492.3

p.E438*

c.1312G>T

9 papers

NM_001042492.3

p.R440Q

c.1319G>A

3 papers

NM_001042492.3

p.R440P

c.1319G>C

1 paper

NM_001042492.3

p.R440L

c.1319G>T