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.S1420T

c.4258T>A

Surrounding Variants

1 paper

NM_000267.3

p.S1399_P1400insA

c.4195_4199ins3

1 paper

NM_001042492.3

p.S1420_P1421del1

c.4260_4262delACC

3 papers

NM_001042492.3

p.S1420*

c.4259C>A

3 papers

NM_001042492.3

p.S1420*

c.4259C>G

3 papers

NM_001042492.3

p.P1421delFs

c.4261delC

2 papers

NM_000267.3

p.V1398D

c.4193T>A

1 paper

NM_001042492.3

p.V1419_S1420delFs

c.4257_4260del4

1 paper

NM_001042492.3

p.P1421fs

c.4261_4262fs

1 paper

NM_001042492.3

p.V1419fs

c.4255_4256fs

2 papers

NM_001042492.3

p.P1421Q

c.4262C>A

2 papers

NM_001042492.3

p.P1421R

c.4262C>G

4 papers

NM_001042492.3

p.P1421L

c.4262C>T