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.G801insFs

c.2402dupG

Surrounding Variants

1 paper

NM_000051.4

p.S800Y

c.2399C>A

3 papers

NM_000051.4

p.S800F

c.2399C>T

2 papers

NM_000051.4

p.G801S

c.2401G>A

1 paper

NM_000051.4

p.G801D

c.2402G>A

1 paper

NM_000051.4

p.F802_F803del2

c.2404_2408del6

1 paper

NM_000051.4

p.F803insFs

c.2408dupT

3 papers

NM_000051.4

p.F802delFs

c.2404delT

2 papers

NM_000051.4

p.F802delFs

c.2405_2406delTT

1 paper

NM_000051.4

p.F802_L804delFs

c.2404_2411del8

17 papers

NM_000051.4

p.A799V

c.2396C>T

1 paper

NM_000051.4

p.F802I

c.2404T>A

1 paper

NM_000051.4

p.F802L

c.2404T>C