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

88 papers

NM_001042492.3

p.R461*

c.1381C>T

Surrounding Variants

2 papers

NM_001042492.3

p.R461fs

c.1381_1382fs

1 paper

NM_001042492.3

p.I460M

c.1380A>G

6 papers

NM_001042492.3

p.R461Q

c.1382G>A

1 paper

NM_001042492.3

p.R461P

c.1382G>C

2 papers

NM_001042492.3

p.R461L

c.1382G>T

1 paper

NM_001042492.3

p.I460T

c.1379T>C

1 paper

NM_001042492.3

p.M462fs

c.1384_1385fs

1 paper

NM_001042492.3

p.I460V

c.1378A>G

1 paper

NM_001042492.3

p.M462V

c.1384A>G

3 papers

NM_001042492.3

p.I460fs

c.1378_1379fs

1 paper

NM_001042492.3

p.I460_M462delFs

c.1378_1385del8

1 paper

NM_001042492.3

p.A463delFs

c.1387delG