Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000179.3

p.L17L

c.51G>T

Surrounding Variants

1 paper

NM_000179.3

p.S18insFs

c.52dupA

1 paper

NM_000179.3

p.S18insFs

c.53dupG

1 paper

NM_000179.3

p.S18_D19insGCG

c.52_56ins9

3 papers

NM_000179.3

p.S18G

c.52A>G

1 paper

NM_000179.3

p.S18C

c.52A>T

1 paper

NM_000179.3

p.L17insFs

c.50_51insAG

1 paper

NM_000179.3

p.L17insFs

c.51dupG

2 papers

NM_000179.3

p.S18N

c.53G>A

1 paper

NM_000179.3

p.S18insFs

c.53_54insA

1 paper

NM_000179.3

p.S18I

c.53G>T

1 paper

NM_000179.3

p.A16A

c.48G>A

1 paper

NM_000179.3

p.A16_L17ins1

c.48_49insTGG