Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.M2158I

c.6474G>C

Surrounding Variants

1 paper

NM_000051.4

p.M2158I

c.6474G>A

1 paper

NM_000051.4

p.M2158I

c.6474G>T

1 paper

NM_000051.4

p.M2158K

c.6473T>A

3 papers

NM_000051.4

p.C2159R

c.6475T>C

1 paper

NM_000051.4

p.M2158T

c.6473T>C

2 papers

NM_000051.4

p.C2159G

c.6475T>G

1 paper

NM_000051.4

p.M2158fs

c.6472_6473fs

1 paper

NM_000051.4

p.C2159Y

c.6476G>A

1 paper

NM_000051.4

p.M2158delFs

c.6472_6473delAT

1 paper

NM_000051.4

p.C2159*

c.6477T>A

2 papers

NM_000051.4

p.C2159W

c.6477T>G

1 paper

NM_000051.4

p.R2161insFs

c.6482_6483dupGC