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

4 papers

NM_000179.3

p.E639E

c.1917G>A

Surrounding Variants

1 paper

NM_000179.3

p.E641del1

c.1921_1922delGAA

2 papers

NM_000179.3

p.E640K

c.1918G>A

1 paper

NM_000179.3

p.E640*

c.1918G>T

4 papers

NM_000179.3

p.E639K

c.1915G>A

1 paper

NM_000179.3

p.E639fs

c.1915_1916fs

1 paper

NM_000179.3

p.L638L

c.1914T>C

4 papers

NM_000179.3

p.L638L

c.1914T>G

1 paper

NM_000179.3

p.E641K

c.1921G>A

1 paper

NM_000179.3

p.E641fs

c.1921_1922fs

5 papers

NM_000179.3

p.E641*

c.1921G>T

1 paper

NM_000179.3

p.E641delFs

c.1923delA

1 paper

NM_000179.3

p.L638Fs

c.1913delinsAGAFs