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

1 paper

NM_000179.3

p.A27V

c.80C>T

Surrounding Variants

1 paper

NM_000179.3

p.A27_S28insFs

c.81_82insA

1 paper

NM_000179.3

p.S28insFs

c.82dupT

1 paper

NM_000179.3

p.A27T

c.79G>A

1 paper

NM_000179.3

p.A27P

c.79G>C

1 paper

NM_000179.3

p.A27_S28insGTA

c.79_83ins9

1 paper

NM_000179.3

p.A27S

c.79G>T

1 paper

NM_000179.3

p.S28T

c.82T>A

2 papers

NM_000179.3

p.S28L

c.83C>T

1 paper

NM_000179.3

p.R26K

c.77G>A

1 paper

NM_000179.3

p.R26insFs

c.76_77ins4

1 paper

NM_000179.3

p.S28_R29insFs

c.84_85insG

3 papers

NM_000179.3

p.S28S

c.84A>T