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.E546A

c.1637A>C

Surrounding Variants

4 papers

NM_000179.3

p.E546G

c.1637A>G

1 paper

NM_000179.3

p.E547delFs

c.1639delG

4 papers

NM_000179.3

p.E546Q

c.1636G>C

8 papers

NM_000179.3

p.E546fs

c.1636_1637fs

2 papers

NM_000179.3

p.E546*

c.1636G>T

1 paper

NM_000179.3

p.E546D

c.1638G>T

1 paper

NM_000179.3

p.E546fs

c.1636_1637fs

1 paper

NM_000179.3

p.E547del1

c.1639_1640delGAA

1 paper

NM_000179.3

p.K545K

c.1635A>G

1 paper

NM_000179.3

p.E546_E547del1

c.1638_1640delGGA

1 paper

NM_000179.3

p.E547K

c.1639G>A

1 paper

NM_000179.3

p.E547fs

c.1639_1640fs