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.L952P

c.2855T>C

Surrounding Variants

2 papers

NM_000179.3

p.L952Q

c.2855T>A

7 papers

NM_000179.3

p.L952L

c.2854C>T

1 paper

NM_000179.3

p.L952L

c.2856G>T

5 papers

NM_000179.3

p.E953K

c.2857G>A

1 paper

NM_000179.3

p.E953Q

c.2857G>C

2 papers

NM_000179.3

p.E953insFs

c.2857_2858insC

2 papers

NM_000179.3

p.E953fs

c.2857_2858fs

1 paper

NM_000179.3

p.E953delFs

c.2859delA

3 papers

NM_000179.3

p.L951H

c.2852T>A

1 paper

NM_000179.3

p.L951P

c.2852T>C

1 paper

NM_000179.3

p.L951fs

c.2851_2852fs

1 paper

NM_000179.3

p.L951fs

c.2851_2852fs