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.A942_R945del4

c.2824_2834del12

Surrounding Variants

1 paper

NM_000179.3

p.A942T

c.2824G>A

1 paper

NM_000179.3

p.A942fs

c.2824_2825fs

1 paper

NM_000179.3

p.A942del1

c.2824_2825delGCT

1 paper

NM_000179.3

p.L941insFs

c.2823dupT

1 paper

NM_000179.3

p.L941V

c.2821C>G

1 paper

NM_000179.3

p.A942G

c.2825C>G

1 paper

NM_000179.3

p.A942V

c.2825C>T

1 paper

NM_000179.3

p.A940A

c.2820T>A

1 paper

NM_000179.3

p.A942A

c.2826T>C

1 paper

NM_000179.3

p.D943H

c.2827G>C

5 papers

NM_000179.3

p.D943Y

c.2827G>T

1 paper

NM_000179.3

p.A940T

c.2818G>A