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.I55_N64del0

c.163_192del30

Surrounding Variants

1 paper

NM_001042492.3

p.V54D

c.161T>A

1 paper

NM_001042492.3

p.V54_I55insFs

c.162_163insAT

1 paper

NM_001042492.3

p.V54_I55delFs

c.162_163delTA

1 paper

NM_001042492.3

p.V54I

c.160G>A

2 papers

NM_001042492.3

p.V54F

c.160G>T

2 papers

NM_001042492.3

p.V54delFs

c.162delT

1 paper

NM_001042492.3

p.I55delFs

c.163delA

2 papers

NM_001042492.3

p.L53F

c.159G>C

2 papers

NM_001042492.3

p.L53F

c.159G>T

1 paper

NM_001042492.3

p.V54del1

c.160_162delGTT

1 paper

NM_001042492.3

p.V54_G57del4

c.160_170del12

1 paper

NM_001042492.3

p.L53*

c.158T>A