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.F468L

c.1404T>A

Surrounding Variants

1 paper

NM_001042492.3

p.F468L

c.1404T>G

1 paper

NM_001042492.3

p.K469E

c.1405A>G

4 papers

NM_001042492.3

p.K469*

c.1405A>T

1 paper

NM_001042492.3

p.E470_E479del0

c.1408_1437del30

2 papers

NM_001042492.3

p.F468S

c.1403T>C

1 paper

NM_001042492.3

p.F468C

c.1403T>G

1 paper

NM_001042492.3

p.K469R

c.1406A>G

1 paper

NM_001042492.3

p.F468L

c.1402T>C

3 papers

NM_001042492.3

p.F468fs

c.1402_1403fs

1 paper

NM_001042492.3

p.F468_T473Fs

c.1403_1417delinsAFs

1 paper

NM_001042492.3

p.K469N

c.1407A>C

1 paper

NM_001042492.3

p.K469N

c.1407A>T