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

2 papers

NM_000051.4

p.Y2833C

c.8498A>G

Surrounding Variants

5 papers

NM_000051.4

p.Y2833*

c.8499C>A

5 papers

NM_000051.4

p.Y2833*

c.8499C>G

2 papers

NM_000051.4

p.C2835_L2840del0

c.8504_8518del15

2 papers

NM_000051.4

p.Y2833H

c.8497T>C

1 paper

NM_000051.4

p.Y2833D

c.8497T>G

1 paper

NM_000051.4

p.F2834I

c.8500T>A

1 paper

NM_000051.4

p.F2834L

c.8500T>C

54 papers

NM_000051.4

p.R2832H

c.8495G>A

1 paper

NM_000051.4

p.R2832P

c.8495G>C

2 papers

NM_000051.4

p.R2832L

c.8495G>T

1 paper

NM_000051.4

p.F2834C

c.8501T>G

1 paper

NM_000051.4

p.R2832S

c.8494C>A