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.P427_I429del3

c.1279_1286del9

Surrounding Variants

16 papers

NM_001042492.3

p.W426*

c.1278G>A

1 paper

NM_001042492.3

p.P427delFs

c.1280delC

1 paper

NM_001042492.3

p.P427fs

c.1279_1280fs

1 paper

NM_001042492.3

p.P427S

c.1279C>T

2 papers

NM_001042492.3

p.P427fs

c.1279_1280fs

1 paper

NM_001042492.3

p.P427_K428delFs

c.1280_1283del4

17 papers

NM_001042492.3

p.W426*

c.1277G>A

1 paper

NM_001042492.3

p.P427_K428del2

c.1279_1283del6

1 paper

NM_001042492.3

p.P427_A431delFs

c.1280_1292del13

1 paper

NM_001042492.3

p.P427L

c.1280C>T

8 papers

NM_001042492.3

p.W425*

c.1275G>A

1 paper

NM_001042492.3

p.W426_P427delFs

c.1277_1281del5