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.Q239*

c.715C>T

Surrounding Variants

1 paper

NM_001042492.3

p.P238P

c.714A>G

3 papers

NM_001042492.3

p.P238L

c.713C>T

1 paper

NM_001042492.3

p.T240_D241del2

c.718_722del6

1 paper

NM_001042492.3

p.T240_A243del4

c.718_728del12

1 paper

NM_001042492.3

p.T240A

c.718A>G

1 paper

NM_001042492.3

p.T240_A243del0

c.719_727del9

2 papers

NM_001042492.3

p.P238A

c.712C>G

4 papers

NM_001042492.3

p.P238S

c.712C>T

1 paper

NM_001042492.3

p.Q239delFs

c.715_716delCA

1 paper

NM_001042492.3

p.P238fs

c.712_713fs

1 paper

NM_001042492.3

p.I237M

c.711C>G

1 paper

NM_001042492.3

p.T240I

c.719C>T