Varaico: Literature-Extracted Genetic Variants

MFHAS1

103 papers

RefSeq Summary

Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GT...

Pfam Domains

LRR_8aa 111–170UCSCLeucine rich repeat

LRR_8aa 150–193UCSCLeucine rich repeat

LRR_8aa 181–239UCSCLeucine rich repeat

LRR_8aa 250–308UCSCLeucine rich repeat

LRR_8aa 296–354UCSCLeucine rich repeat

Gene Aliases

HGNC Name

multifunctional ROCO family signaling regulator 1

HGNC Alias Symbols

MASL1; LRRC65

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004225.3

p.E80G

c.239A>G

Surrounding Variants

1 paper

NM_004225.3

p.P79R

c.236C>G

1 paper

NM_004225.3

p.E77delFs

c.230delT

1 paper

NM_004225.3

p.E77K

c.229G>A

1 paper

NM_004225.3

p.L68Q

c.203T>A

1 paper

NM_004225.3

p.L62I

c.184C>A

1 paper

NM_004225.3

p.A100G

c.299C>G

2 papers

NM_004225.3

p.L102R

c.305T>G

1 paper

NM_004225.3

p.Q55H

c.165G>T

1 paper

NM_004225.3

p.Q55H

c.165G>C

9 papers

NM_004225.3

p.V106G

c.317T>G

1 paper

NM_004225.3

p.S53F

c.158C>T

1 paper

NM_004225.3

p.E108G

c.323A>G