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.A422V

c.1265C>T

Surrounding Variants

7 papers

NM_001042492.3

p.A422T

c.1264G>A

1 paper

NM_001042492.3

p.A422fs

c.1264_1265fs

1 paper

NM_001042492.3

p.A422S

c.1264G>T

2 papers

NM_001042492.3

p.A422fs

c.1264_1265fs

2 papers

NM_001042492.3

p.S421S

c.1263C>T

1 paper

NM_001042492.3

p.A422_L423del2

c.1264_1268del6

1 paper

NM_001042492.3

p.A422_P427del6

c.1264_1280del18

2 papers

NM_001042492.3

p.S421F

c.1262C>T

1 paper

NM_001042492.3

p.L423*

c.1268T>A

1 paper

NM_001042492.3

p.L423W

c.1268T>G

1 paper

NM_001042492.3

p.L423insFs

c.1269dupG

1 paper

NM_001042492.3

p.L423L

c.1269G>A