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.L638fs

c.1912_1913fs

Surrounding Variants

1 paper

NM_000179.3

p.L638F

c.1912C>T

1 paper

NM_000179.3

p.L638Fs

c.1912delinsTTFs

1 paper

NM_000179.3

p.L638Fs

c.1913delinsAGAFs

2 papers

NM_000179.3

p.L637P

c.1910T>C

1 paper

NM_000179.3

p.L638L

c.1914T>C

4 papers

NM_000179.3

p.L638L

c.1914T>G

2 papers

NM_000179.3

p.L637delFs

c.1911delC

1 paper

NM_000179.3

p.L637_L638delFs

c.1911_1912delCC

2 papers

NM_000179.3

p.L637fs

c.1909_1910fs

1 paper

NM_000179.3

p.L637V

c.1909C>G

1 paper

NM_000179.3

p.L637F

c.1909C>T

1 paper

NM_000179.3

p.L637fs

c.1909_1910fs