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

7 papers

NM_000051.4

p.A1670V

c.5009C>T

Surrounding Variants

1 paper

NM_000051.4

p.A1670fs

c.5008_5009fs

1 paper

NM_000051.4

p.A1670_V1671insFs

c.5010_5011insA

1 paper

NM_000051.4

p.V1671_C1674del4

c.5011_5021del12

1 paper

NM_000051.4

p.V1671I

c.5011G>A

1 paper

NM_000051.4

p.V1671fs

c.5011_5012fs

2 papers

NM_000051.4

p.E1669D

c.5007G>T

1 paper

NM_000051.4

p.V1671F

c.5011G>T

3 papers

NM_000051.4

p.E1669fs

c.5005_5006fs

1 paper

NM_000051.4

p.V1671D

c.5012T>A

3 papers

NM_000051.4

p.E1669Splc

c.5006-1G>A

1 paper

NM_000051.4

p.E1669Splc

c.5006-1G>C

1 paper

NM_000051.4

p.G1672delFs

c.5015delG