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

6 papers

NM_001042492.3

p.Y1369*

c.4107C>A

Surrounding Variants

6 papers

NM_001042492.3

p.Y1369*

c.4107C>G

1 paper

NM_001042492.3

p.Y1369C

c.4106A>G

1 paper

NM_000267.3

p.Q1370_V1371ins9

c.4108_4112ins27

10 papers

NM_001042492.3

p.Q1370*

c.4108C>T

3 papers

NM_001042492.3

p.Q1370P

c.4109A>C

2 papers

NM_001042492.3

p.Q1370delins

c.4109_4110delinsCC

1 paper

NM_001042492.3

p.Y1369insFs

c.4106dupA

1 paper

NM_001042492.3

p.Y1369fs

c.4105_4106fs

1 paper

NM_001042492.3

p.L1368_Q1370Fs

c.4104_4108delinsTACAFs

3 papers

NM_001042492.3

p.Q1370H

c.4110G>C

2 papers

NM_001042492.3

p.Q1370H

c.4110G>T

7 papers

NM_001042492.3

p.Q1370_A1371Splc

c.4110+1G>A