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.N338I

c.1013A>T

Surrounding Variants

2 papers

NM_000051.4

p.N338Y

c.1012A>T

1 paper

NM_000051.4

p.I339fs

c.1015_1016fs

1 paper

NM_000051.4

p.I339insFs

c.1016dupT

1 paper

NM_000051.4

p.I339delFs

c.1017delT

1 paper

NM_000051.4

p.N338delFs

c.1013delA

1 paper

NM_000051.4

p.N338_V341del0

c.1012_1023del12

1 paper

NM_000051.4

p.I339_N344del0

c.1015_1032del18

94 papers

NM_000051.4

p.R337H

c.1010G>A

1 paper

NM_000051.4

p.R337P

c.1010G>C

3 papers

NM_000051.4

p.R337L

c.1010G>T

1 paper

NM_000051.4

p.I339T

c.1016T>C

7 papers

NM_000051.4

p.R337S

c.1009C>A