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.C687*

c.2061T>A

Surrounding Variants

1 paper

NM_000179.3

p.C687W

c.2061T>G

1 paper

NM_000179.3

p.C687Y

c.2060G>A

2 papers

NM_000179.3

p.V688fs

c.2062_2063fs

1 paper

NM_000179.3

p.V688F

c.2062G>T

4 papers

NM_000179.3

p.V688fs

c.2062_2063fs

1 paper

NM_001281492.2

p.F559del1

c.1675_1676delTTC

1 paper

NM_001281492.2

p.V558_S572del0

c.1673_1714del42

1 paper

NM_001281492.2

p.C557_K562del0

c.1671_1685del15

2 papers

NM_000179.3

p.V688D

c.2063T>A

1 paper

NM_001281492.2

p.C557S

c.1669T>A

1 paper

NM_001281492.2

p.C557R

c.1669T>C

1 paper

NM_000179.3

p.V688G

c.2063T>G