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

3 papers

NM_000179.3

p.P55L

c.164C>T

Surrounding Variants

2 papers

NM_000179.3

p.P55R

c.164C>G

2 papers

NM_000179.3

p.P55S

c.163C>T

1 paper

NM_000179.3

p.G56_P57ins0

c.166_171dup6

1 paper

NM_000179.3

p.G56ins2

c.166_167ins6

1 paper

NM_000179.3

p.G56fs

c.166_167fs

1 paper

NM_000179.3

p.G56_P57insGCC

c.166_170ins9

1 paper

NM_000179.3

p.G56_L60delFs

c.166_178del13

1 paper

NM_000179.3

p.P57_R58del2

c.169_173del6

2 papers

NM_000179.3

p.G54E

c.161G>A

2 papers

NM_000179.3

p.G56E

c.167G>A

9 papers

NM_000179.3

p.G54A

c.161G>C

1 paper

NM_000179.3

p.G54_L60del0

c.162_179del18